| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.13776602_13776615delinsCAGGTTCTCATTGG | CA1528435272 | DNAH5 | c.9197_9210delinsCCAATGAGAACCTG (p.Thr3066=) c.9152_9165delinsCCAATGAGAACCTG (p.Thr3051=) c.9305_9318delinsCCAATGAGAACCTG (p.Thr3102=) c.8210_8223delinsCCAATGAGAACCTG (p.Thr2737=) c.4394_4407delinsCCAATGAGAACCTG (p.Thr1465=) c.3947_3960delinsCCAATGAGAACCTG (p.Thr1316=) c.3284_3297delinsCCAATGAGAACCTG (p.Thr1095=) c.7799_7812delinsCCAATGAGAACCTG (p.Thr2600=) | |
| 5 | g.13776603_13776615del | CA1528435275 | DNAH5 | c.9197_9209del (p.Thr3066SerfsTer6) c.9152_9164del (p.Thr3051SerfsTer6) c.9305_9317del (p.Thr3102SerfsTer6) c.8210_8222del (p.Thr2737SerfsTer6) c.4394_4406del (p.Thr1465SerfsTer6) c.3947_3959del (p.Thr1316SerfsTer6) c.3284_3296del (p.Thr1095SerfsTer6) c.7799_7811del (p.Thr2600SerfsTer6) | dbSNP |
| 5 | g.13776612T>A | CA359209190 | DNAH5 | c.9200A>T (p.Asn3067Ile) c.9155A>T (p.Asn3052Ile) c.9308A>T (p.Asn3103Ile) c.8213A>T (p.Asn2738Ile) c.4397A>T (p.Asn1466Ile) c.3950A>T (p.Asn1317Ile) c.3287A>T (p.Asn1096Ile) c.7802A>T (p.Asn2601Ile) | |
| 5 | g.13776612T>C | CA113937736 | DNAH5 | c.9200A>G (p.Asn3067Ser) c.9155A>G (p.Asn3052Ser) c.9308A>G (p.Asn3103Ser) c.8213A>G (p.Asn2738Ser) c.4397A>G (p.Asn1466Ser) c.3950A>G (p.Asn1317Ser) c.3287A>G (p.Asn1096Ser) c.7802A>G (p.Asn2601Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776612T>G | CA359209192 | DNAH5 | c.9200A>C (p.Asn3067Thr) c.9155A>C (p.Asn3052Thr) c.9308A>C (p.Asn3103Thr) c.8213A>C (p.Asn2738Thr) c.4397A>C (p.Asn1466Thr) c.3950A>C (p.Asn1317Thr) c.3287A>C (p.Asn1096Thr) c.7802A>C (p.Asn2601Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776612T= | CA1528435287 | DNAH5 | c.9200A= (p.Asn3067=) c.9155A= (p.Asn3052=) c.9308A= (p.Asn3103=) c.8213A= (p.Asn2738=) c.4397A= (p.Asn1466=) c.3950A= (p.Asn1317=) c.3287A= (p.Asn1096=) c.7802A= (p.Asn2601=) | |
| 5 | g.13776613T>A | CA359209193 | DNAH5 | c.9199A>T (p.Asn3067Tyr) c.9154A>T (p.Asn3052Tyr) c.9307A>T (p.Asn3103Tyr) c.8212A>T (p.Asn2738Tyr) c.4396A>T (p.Asn1466Tyr) c.3949A>T (p.Asn1317Tyr) c.3286A>T (p.Asn1096Tyr) c.7801A>T (p.Asn2601Tyr) | |
| 5 | g.13776613T>C | CA359209195 | DNAH5 | c.9199A>G (p.Asn3067Asp) c.9154A>G (p.Asn3052Asp) c.9307A>G (p.Asn3103Asp) c.8212A>G (p.Asn2738Asp) c.4396A>G (p.Asn1466Asp) c.3949A>G (p.Asn1317Asp) c.3286A>G (p.Asn1096Asp) c.7801A>G (p.Asn2601Asp) | |
| 5 | g.13776613T>G | CA359209197 | DNAH5 | c.9199A>C (p.Asn3067His) c.9154A>C (p.Asn3052His) c.9307A>C (p.Asn3103His) c.8212A>C (p.Asn2738His) c.4396A>C (p.Asn1466His) c.3949A>C (p.Asn1317His) c.3286A>C (p.Asn1096His) c.7801A>C (p.Asn2601His) | |
| 5 | g.13776613_13776614delinsTG | CA1528435290 | DNAH5 | c.9198_9199delinsCA (p.Thr3066=) c.9153_9154delinsCA (p.Thr3051=) c.9306_9307delinsCA (p.Thr3102=) c.8211_8212delinsCA (p.Thr2737=) c.4395_4396delinsCA (p.Thr1465=) c.3948_3949delinsCA (p.Thr1316=) c.3285_3286delinsCA (p.Thr1095=) c.7800_7801delinsCA (p.Thr2600=) | |
| 5 | g.13776614G>A | CA443535658 | DNAH5 | c.9198C>T (p.Thr3066=) c.9153C>T (p.Thr3051=) c.9306C>T (p.Thr3102=) c.8211C>T (p.Thr2737=) c.4395C>T (p.Thr1465=) c.3948C>T (p.Thr1316=) c.3285C>T (p.Thr1095=) c.7800C>T (p.Thr2600=) | |
| 5 | g.13776614G>C | CA443535657 | DNAH5 | c.9198C>G (p.Thr3066=) c.9153C>G (p.Thr3051=) c.9306C>G (p.Thr3102=) c.8211C>G (p.Thr2737=) c.4395C>G (p.Thr1465=) c.3948C>G (p.Thr1316=) c.3285C>G (p.Thr1095=) c.7800C>G (p.Thr2600=) | |
| 5 | g.13776614G>T | CA443535656 | DNAH5 | c.9198C>A (p.Thr3066=) c.9153C>A (p.Thr3051=) c.9306C>A (p.Thr3102=) c.8211C>A (p.Thr2737=) c.4395C>A (p.Thr1465=) c.3948C>A (p.Thr1316=) c.3285C>A (p.Thr1095=) c.7800C>A (p.Thr2600=) | gnomAD v4 |
| 5 | g.13776615del | CA1528435292 | DNAH5 | c.9198del (p.Asn3067MetfsTer9) c.9153del (p.Asn3052MetfsTer9) c.9306del (p.Asn3103MetfsTer9) c.8211del (p.Asn2738MetfsTer9) c.4395del (p.Asn1466MetfsTer9) c.3948del (p.Asn1317MetfsTer9) c.3285del (p.Asn1096MetfsTer9) c.7800del (p.Asn2601MetfsTer9) | dbSNP |
| 5 | g.13776615G>A | CA359209199 | DNAH5 | c.9197C>T (p.Thr3066Ile) c.9152C>T (p.Thr3051Ile) c.9305C>T (p.Thr3102Ile) c.8210C>T (p.Thr2737Ile) c.4394C>T (p.Thr1465Ile) c.3947C>T (p.Thr1316Ile) c.3284C>T (p.Thr1095Ile) c.7799C>T (p.Thr2600Ile) | |
| 5 | g.13776615G>C | CA359209202 | DNAH5 | c.9197C>G (p.Thr3066Ser) c.9152C>G (p.Thr3051Ser) c.9305C>G (p.Thr3102Ser) c.8210C>G (p.Thr2737Ser) c.4394C>G (p.Thr1465Ser) c.3947C>G (p.Thr1316Ser) c.3284C>G (p.Thr1095Ser) c.7799C>G (p.Thr2600Ser) | |
| 5 | g.13776615G>T | CA359209207 | DNAH5 | c.9197C>A (p.Thr3066Asn) c.9152C>A (p.Thr3051Asn) c.9305C>A (p.Thr3102Asn) c.8210C>A (p.Thr2737Asn) c.4394C>A (p.Thr1465Asn) c.3947C>A (p.Thr1316Asn) c.3284C>A (p.Thr1095Asn) c.7799C>A (p.Thr2600Asn) | |
| 5 | g.13776616T>A | CA359209224 | DNAH5 | c.9196A>T (p.Thr3066Ser) c.9151A>T (p.Thr3051Ser) c.9304A>T (p.Thr3102Ser) c.8209A>T (p.Thr2737Ser) c.4393A>T (p.Thr1465Ser) c.3946A>T (p.Thr1316Ser) c.3283A>T (p.Thr1095Ser) c.7798A>T (p.Thr2600Ser) | |
| 5 | g.13776616T>C | CA359209211 | DNAH5 | c.9196A>G (p.Thr3066Ala) c.9151A>G (p.Thr3051Ala) c.9304A>G (p.Thr3102Ala) c.8209A>G (p.Thr2737Ala) c.4393A>G (p.Thr1465Ala) c.3946A>G (p.Thr1316Ala) c.3283A>G (p.Thr1095Ala) c.7798A>G (p.Thr2600Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776616T>G | CA359209210 | DNAH5 | c.9196A>C (p.Thr3066Pro) c.9151A>C (p.Thr3051Pro) c.9304A>C (p.Thr3102Pro) c.8209A>C (p.Thr2737Pro) c.4393A>C (p.Thr1465Pro) c.3946A>C (p.Thr1316Pro) c.3283A>C (p.Thr1095Pro) c.7798A>C (p.Thr2600Pro) | |
| 5 | g.13776616T= | CA1528435295 | DNAH5 | c.9196A= (p.Thr3066=) c.9151A= (p.Thr3051=) c.9304A= (p.Thr3102=) c.8209A= (p.Thr2737=) c.4393A= (p.Thr1465=) c.3946A= (p.Thr1316=) c.3283A= (p.Thr1095=) c.7798A= (p.Thr2600=) | |
| 5 | g.13776617A>C | CA443535662 | DNAH5 | c.9195T>G (p.Pro3065=) c.9150T>G (p.Pro3050=) c.9303T>G (p.Pro3101=) c.8208T>G (p.Pro2736=) c.4392T>G (p.Pro1464=) c.3945T>G (p.Pro1315=) c.3282T>G (p.Pro1094=) c.7797T>G (p.Pro2599=) | |
| 5 | g.13776617A>G | CA443535665 | DNAH5 | c.9195T>C (p.Pro3065=) c.9150T>C (p.Pro3050=) c.9303T>C (p.Pro3101=) c.8208T>C (p.Pro2736=) c.4392T>C (p.Pro1464=) c.3945T>C (p.Pro1315=) c.3282T>C (p.Pro1094=) c.7797T>C (p.Pro2599=) | |
| 5 | g.13776617A>T | CA443535663 | DNAH5 | c.9195T>A (p.Pro3065=) c.9150T>A (p.Pro3050=) c.9303T>A (p.Pro3101=) c.8208T>A (p.Pro2736=) c.4392T>A (p.Pro1464=) c.3945T>A (p.Pro1315=) c.3282T>A (p.Pro1094=) c.7797T>A (p.Pro2599=) | |
| 5 | g.13776618G>A | CA359209225 | DNAH5 | c.9194C>T (p.Pro3065Leu) c.9149C>T (p.Pro3050Leu) c.9302C>T (p.Pro3101Leu) c.8207C>T (p.Pro2736Leu) c.4391C>T (p.Pro1464Leu) c.3944C>T (p.Pro1315Leu) c.3281C>T (p.Pro1094Leu) c.7796C>T (p.Pro2599Leu) | gnomAD v4 |
| 5 | g.13776618G>C | CA359209227 | DNAH5 | c.9194C>G (p.Pro3065Arg) c.9149C>G (p.Pro3050Arg) c.9302C>G (p.Pro3101Arg) c.8207C>G (p.Pro2736Arg) c.4391C>G (p.Pro1464Arg) c.3944C>G (p.Pro1315Arg) c.3281C>G (p.Pro1094Arg) c.7796C>G (p.Pro2599Arg) | |
| 5 | g.13776618G>T | CA359209232 | DNAH5 | c.9194C>A (p.Pro3065His) c.9149C>A (p.Pro3050His) c.9302C>A (p.Pro3101His) c.8207C>A (p.Pro2736His) c.4391C>A (p.Pro1464His) c.3944C>A (p.Pro1315His) c.3281C>A (p.Pro1094His) c.7796C>A (p.Pro2599His) | |
| 5 | g.13776619G>A | CA359209234 | DNAH5 | c.9193C>T (p.Pro3065Ser) c.9148C>T (p.Pro3050Ser) c.9301C>T (p.Pro3101Ser) c.8206C>T (p.Pro2736Ser) c.4390C>T (p.Pro1464Ser) c.3943C>T (p.Pro1315Ser) c.3280C>T (p.Pro1094Ser) c.7795C>T (p.Pro2599Ser) | COSMIC |
| 5 | g.13776619G>C | CA359209236 | DNAH5 | c.9193C>G (p.Pro3065Ala) c.9148C>G (p.Pro3050Ala) c.9301C>G (p.Pro3101Ala) c.8206C>G (p.Pro2736Ala) c.4390C>G (p.Pro1464Ala) c.3943C>G (p.Pro1315Ala) c.3280C>G (p.Pro1094Ala) c.7795C>G (p.Pro2599Ala) | |
| 5 | g.13776619G>T | CA359209238 | DNAH5 | c.9193C>A (p.Pro3065Thr) c.9148C>A (p.Pro3050Thr) c.9301C>A (p.Pro3101Thr) c.8206C>A (p.Pro2736Thr) c.4390C>A (p.Pro1464Thr) c.3943C>A (p.Pro1315Thr) c.3280C>A (p.Pro1094Thr) c.7795C>A (p.Pro2599Thr) | |
| 5 | g.13776620A= | CA1528435296 | DNAH5 | c.9192T= (p.Leu3064=) c.9147T= (p.Leu3049=) c.9300T= (p.Leu3100=) c.8205T= (p.Leu2735=) c.4389T= (p.Leu1463=) c.3942T= (p.Leu1314=) c.3279T= (p.Leu1093=) c.7794T= (p.Leu2598=) n.9186T= | |
| 5 | g.13776620A>C | CA443535670 | DNAH5 | c.9192T>G (p.Leu3064=) c.9147T>G (p.Leu3049=) c.9300T>G (p.Leu3100=) c.8205T>G (p.Leu2735=) c.4389T>G (p.Leu1463=) c.3942T>G (p.Leu1314=) c.3279T>G (p.Leu1093=) c.7794T>G (p.Leu2598=) n.9186T>G | gnomAD v4 |
| 5 | g.13776620A>G | CA443535672 | DNAH5 | c.9192T>C (p.Leu3064=) c.9147T>C (p.Leu3049=) c.9300T>C (p.Leu3100=) c.8205T>C (p.Leu2735=) c.4389T>C (p.Leu1463=) c.3942T>C (p.Leu1314=) c.3279T>C (p.Leu1093=) c.7794T>C (p.Leu2598=) n.9186T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776620A>T | CA443535673 | DNAH5 | c.9192T>A (p.Leu3064=) c.9147T>A (p.Leu3049=) c.9300T>A (p.Leu3100=) c.8205T>A (p.Leu2735=) c.4389T>A (p.Leu1463=) c.3942T>A (p.Leu1314=) c.3279T>A (p.Leu1093=) c.7794T>A (p.Leu2598=) n.9186T>A | |
| 5 | g.13776621A= | CA1528435299 | DNAH5 | c.9191T= (p.Leu3064=) c.9146T= (p.Leu3049=) c.9299T= (p.Leu3100=) c.8204T= (p.Leu2735=) c.4388T= (p.Leu1463=) c.3941T= (p.Leu1314=) c.3278T= (p.Leu1093=) c.7793T= (p.Leu2598=) n.9185T= | |
| 5 | g.13776621A>C | CA359209239 | DNAH5 | c.9191T>G (p.Leu3064Arg) c.9146T>G (p.Leu3049Arg) c.9299T>G (p.Leu3100Arg) c.8204T>G (p.Leu2735Arg) c.4388T>G (p.Leu1463Arg) c.3941T>G (p.Leu1314Arg) c.3278T>G (p.Leu1093Arg) c.7793T>G (p.Leu2598Arg) n.9185T>G | |
| 5 | g.13776621A>G | CA359209240 | DNAH5 | c.9191T>C (p.Leu3064Pro) c.9146T>C (p.Leu3049Pro) c.9299T>C (p.Leu3100Pro) c.8204T>C (p.Leu2735Pro) c.4388T>C (p.Leu1463Pro) c.3941T>C (p.Leu1314Pro) c.3278T>C (p.Leu1093Pro) c.7793T>C (p.Leu2598Pro) n.9185T>C | |
| 5 | g.13776621A>T | CA359209244 | DNAH5 | c.9191T>A (p.Leu3064His) c.9146T>A (p.Leu3049His) c.9299T>A (p.Leu3100His) c.8204T>A (p.Leu2735His) c.4388T>A (p.Leu1463His) c.3941T>A (p.Leu1314His) c.3278T>A (p.Leu1093His) c.7793T>A (p.Leu2598His) n.9185T>A | dbSNP |
| 5 | g.13776622G>A | CA359209250 | DNAH5 | c.9190C>T (p.Leu3064Phe) c.9145C>T (p.Leu3049Phe) c.9298C>T (p.Leu3100Phe) c.8203C>T (p.Leu2735Phe) c.4387C>T (p.Leu1463Phe) c.3940C>T (p.Leu1314Phe) c.3277C>T (p.Leu1093Phe) c.7792C>T (p.Leu2598Phe) n.9184C>T | gnomAD v4 |
| 5 | g.13776622G>C | CA359209252 | DNAH5 | c.9190C>G (p.Leu3064Val) c.9145C>G (p.Leu3049Val) c.9298C>G (p.Leu3100Val) c.8203C>G (p.Leu2735Val) c.4387C>G (p.Leu1463Val) c.3940C>G (p.Leu1314Val) c.3277C>G (p.Leu1093Val) c.7792C>G (p.Leu2598Val) n.9184C>G | |
| 5 | g.13776622G>T | CA359209255 | DNAH5 | c.9190C>A (p.Leu3064Ile) c.9145C>A (p.Leu3049Ile) c.9298C>A (p.Leu3100Ile) c.8203C>A (p.Leu2735Ile) c.4387C>A (p.Leu1463Ile) c.3940C>A (p.Leu1314Ile) c.3277C>A (p.Leu1093Ile) c.7792C>A (p.Leu2598Ile) n.9184C>A | |
| 5 | g.13776623G>A | CA443535674 | DNAH5 | c.9189C>T (p.Cys3063=) c.9144C>T (p.Cys3048=) c.9297C>T (p.Cys3099=) c.8202C>T (p.Cys2734=) c.4386C>T (p.Cys1462=) c.3939C>T (p.Cys1313=) c.3276C>T (p.Cys1092=) c.7791C>T (p.Cys2597=) n.9183C>T | |
| 5 | g.13776623G>C | CA359209261 | DNAH5 | c.9189C>G (p.Cys3063Trp) c.9144C>G (p.Cys3048Trp) c.9297C>G (p.Cys3099Trp) c.8202C>G (p.Cys2734Trp) c.4386C>G (p.Cys1462Trp) c.3939C>G (p.Cys1313Trp) c.3276C>G (p.Cys1092Trp) c.7791C>G (p.Cys2597Trp) n.9183C>G | gnomAD v4 |
| 5 | g.13776623G>T | CA359209263 | DNAH5 | c.9189C>A (p.Cys3063Ter) c.9144C>A (p.Cys3048Ter) c.9297C>A (p.Cys3099Ter) c.8202C>A (p.Cys2734Ter) c.4386C>A (p.Cys1462Ter) c.3939C>A (p.Cys1313Ter) c.3276C>A (p.Cys1092Ter) c.7791C>A (p.Cys2597Ter) n.9183C>A | |
| 5 | g.13776624C>A | CA359209266 | DNAH5 | c.9188G>T (p.Cys3063Phe) c.9143G>T (p.Cys3048Phe) c.9296G>T (p.Cys3099Phe) c.8201G>T (p.Cys2734Phe) c.*75G>T (n.*75G>T) c.4385G>T (p.Cys1462Phe) c.3938G>T (p.Cys1313Phe) c.3275G>T (p.Cys1092Phe) c.7790G>T (p.Cys2597Phe) n.9182G>T n.9177G>T | |
| 5 | g.13776624C>G | CA359209267 | DNAH5 | c.9188G>C (p.Cys3063Ser) c.9143G>C (p.Cys3048Ser) c.9296G>C (p.Cys3099Ser) c.8201G>C (p.Cys2734Ser) c.*75G>C (n.*75G>C) c.4385G>C (p.Cys1462Ser) c.3938G>C (p.Cys1313Ser) c.3275G>C (p.Cys1092Ser) c.7790G>C (p.Cys2597Ser) n.9182G>C n.9177G>C | |
| 5 | g.13776624C>T | CA359209265 | DNAH5 | c.9188G>A (p.Cys3063Tyr) c.9143G>A (p.Cys3048Tyr) c.9296G>A (p.Cys3099Tyr) c.8201G>A (p.Cys2734Tyr) c.*75G>A (n.*75G>A) c.4385G>A (p.Cys1462Tyr) c.3938G>A (p.Cys1313Tyr) c.3275G>A (p.Cys1092Tyr) c.7790G>A (p.Cys2597Tyr) n.9182G>A n.9177G>A | |
| 5 | g.13776625A>C | CA359209268 | DNAH5 | c.9187T>G (p.Cys3063Gly) c.9142T>G (p.Cys3048Gly) c.9295T>G (p.Cys3099Gly) c.8200T>G (p.Cys2734Gly) c.*74T>G (n.*74T>G) c.4384T>G (p.Cys1462Gly) c.3937T>G (p.Cys1313Gly) c.3274T>G (p.Cys1092Gly) c.7789T>G (p.Cys2597Gly) n.9181T>G n.9176T>G | |
| 5 | g.13776625A>G | CA359209272 | DNAH5 | c.9187T>C (p.Cys3063Arg) c.9142T>C (p.Cys3048Arg) c.9295T>C (p.Cys3099Arg) c.8200T>C (p.Cys2734Arg) c.*74T>C (n.*74T>C) c.4384T>C (p.Cys1462Arg) c.3937T>C (p.Cys1313Arg) c.3274T>C (p.Cys1092Arg) c.7789T>C (p.Cys2597Arg) n.9181T>C n.9176T>C | gnomAD v4 |
| 5 | g.13776625A>T | CA359209274 | DNAH5 | c.9187T>A (p.Cys3063Ser) c.9142T>A (p.Cys3048Ser) c.9295T>A (p.Cys3099Ser) c.8200T>A (p.Cys2734Ser) c.*74T>A (n.*74T>A) c.4384T>A (p.Cys1462Ser) c.3937T>A (p.Cys1313Ser) c.3274T>A (p.Cys1092Ser) c.7789T>A (p.Cys2597Ser) n.9181T>A n.9176T>A | |
| 5 | g.13776626C>A | CA359209275 | DNAH5 | c.9186G>T (p.Arg3062Ser) c.9141G>T (p.Arg3047Ser) c.9294G>T (p.Arg3098Ser) c.8199G>T (p.Arg2733Ser) c.*73G>T (n.*73G>T) c.4383G>T (p.Arg1461Ser) c.3936G>T (p.Arg1312Ser) c.3273G>T (p.Arg1091Ser) c.7788G>T (p.Arg2596Ser) n.9180G>T n.9175G>T | gnomAD v4 |
| 5 | g.13776626C>G | CA359209276 | DNAH5 | c.9186G>C (p.Arg3062Ser) c.9141G>C (p.Arg3047Ser) c.9294G>C (p.Arg3098Ser) c.8199G>C (p.Arg2733Ser) c.*73G>C (n.*73G>C) c.4383G>C (p.Arg1461Ser) c.3936G>C (p.Arg1312Ser) c.3273G>C (p.Arg1091Ser) c.7788G>C (p.Arg2596Ser) n.9180G>C n.9175G>C | |
| 5 | g.13776626C>T | CA443535680 | DNAH5 | c.9186G>A (p.Arg3062=) c.9141G>A (p.Arg3047=) c.9294G>A (p.Arg3098=) c.8199G>A (p.Arg2733=) c.*73G>A (n.*73G>A) c.4383G>A (p.Arg1461=) c.3936G>A (p.Arg1312=) c.3273G>A (p.Arg1091=) c.7788G>A (p.Arg2596=) n.9180G>A n.9175G>A | ClinVar |
| 5 | g.13776627del | CA2697547083 | DNAH5 | c.9186del (p.Arg3062SerfsTer14) c.9141del (p.Arg3047SerfsTer14) c.9294del (p.Arg3098SerfsTer14) c.8199del (p.Arg2733SerfsTer14) c.*73del (n.*73del) c.4383del (p.Arg1461SerfsTer14) c.3936del (p.Arg1312SerfsTer14) c.3273del (p.Arg1091SerfsTer14) c.7788del (p.Arg2596SerfsTer14) n.9180del n.9175del | ClinVar |
| 5 | g.13776627C>A | CA359209277 | DNAH5 | c.9185G>T (p.Arg3062Met) c.9140G>T (p.Arg3047Met) c.9293G>T (p.Arg3098Met) c.8198G>T (p.Arg2733Met) c.*72G>T (n.*72G>T) c.4382G>T (p.Arg1461Met) c.3935G>T (p.Arg1312Met) c.3272G>T (p.Arg1091Met) c.7787G>T (p.Arg2596Met) n.9179G>T n.9174G>T | |
| 5 | g.13776627C>G | CA359209278 | DNAH5 | c.9185G>C (p.Arg3062Thr) c.9140G>C (p.Arg3047Thr) c.9293G>C (p.Arg3098Thr) c.8198G>C (p.Arg2733Thr) c.*72G>C (n.*72G>C) c.4382G>C (p.Arg1461Thr) c.3935G>C (p.Arg1312Thr) c.3272G>C (p.Arg1091Thr) c.7787G>C (p.Arg2596Thr) n.9179G>C n.9174G>C | |
| 5 | g.13776627C>T | CA359209279 | DNAH5 | c.9185G>A (p.Arg3062Lys) c.9140G>A (p.Arg3047Lys) c.9293G>A (p.Arg3098Lys) c.8198G>A (p.Arg2733Lys) c.*72G>A (n.*72G>A) c.4382G>A (p.Arg1461Lys) c.3935G>A (p.Arg1312Lys) c.3272G>A (p.Arg1091Lys) c.7787G>A (p.Arg2596Lys) n.9179G>A n.9174G>A | |
| 5 | g.13776628T>A | CA359209280 | DNAH5 | c.9184A>T (p.Arg3062Trp) c.9139A>T (p.Arg3047Trp) c.9292A>T (p.Arg3098Trp) c.8197A>T (p.Arg2733Trp) c.*71A>T (n.*71A>T) c.4381A>T (p.Arg1461Trp) c.3934A>T (p.Arg1312Trp) c.3271A>T (p.Arg1091Trp) c.7786A>T (p.Arg2596Trp) n.9178A>T n.9173A>T | |
| 5 | g.13776628T>C | CA113937742 | DNAH5 | c.9184A>G (p.Arg3062Gly) c.9139A>G (p.Arg3047Gly) c.9292A>G (p.Arg3098Gly) c.8197A>G (p.Arg2733Gly) c.*71A>G (n.*71A>G) c.4381A>G (p.Arg1461Gly) c.3934A>G (p.Arg1312Gly) c.3271A>G (p.Arg1091Gly) c.7786A>G (p.Arg2596Gly) n.9178A>G n.9173A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776628T>G | CA443535683 | DNAH5 | c.9184A>C (p.Arg3062=) c.9139A>C (p.Arg3047=) c.9292A>C (p.Arg3098=) c.8197A>C (p.Arg2733=) c.*71A>C (n.*71A>C) c.4381A>C (p.Arg1461=) c.3934A>C (p.Arg1312=) c.3271A>C (p.Arg1091=) c.7786A>C (p.Arg2596=) n.9178A>C n.9173A>C | |
| 5 | g.13776628T= | CA1528435303 | DNAH5 | c.9184A= (p.Arg3062=) c.9139A= (p.Arg3047=) c.9292A= (p.Arg3098=) c.8197A= (p.Arg2733=) c.*71A= (n.*71A=) c.4381A= (p.Arg1461=) c.3934A= (p.Arg1312=) c.3271A= (p.Arg1091=) c.7786A= (p.Arg2596=) n.9178A= n.9173A= | |
| 5 | g.13776629G>A | CA3202597 | DNAH5 | c.9183C>T (p.Pro3061=) c.9138C>T (p.Pro3046=) c.9291C>T (p.Pro3097=) c.8196C>T (p.Pro2732=) c.*70C>T (n.*70C>T) c.4380C>T (p.Pro1460=) c.3933C>T (p.Pro1311=) c.3270C>T (p.Pro1090=) c.7785C>T (p.Pro2595=) n.9177C>T n.9172C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.13776629G>C | CA443535685 | DNAH5 | c.9183C>G (p.Pro3061=) c.9138C>G (p.Pro3046=) c.9291C>G (p.Pro3097=) c.8196C>G (p.Pro2732=) c.*70C>G (n.*70C>G) c.4380C>G (p.Pro1460=) c.3933C>G (p.Pro1311=) c.3270C>G (p.Pro1090=) c.7785C>G (p.Pro2595=) n.9177C>G n.9172C>G | |
| 5 | g.13776629G= | CA1528435306 | DNAH5 | c.9183C= (p.Pro3061=) c.9138C= (p.Pro3046=) c.9291C= (p.Pro3097=) c.8196C= (p.Pro2732=) c.*70C= (n.*70C=) c.4380C= (p.Pro1460=) c.3933C= (p.Pro1311=) c.3270C= (p.Pro1090=) c.7785C= (p.Pro2595=) n.9177C= n.9172C= | |
| 5 | g.13776629G>T | CA443535686 | DNAH5 | c.9183C>A (p.Pro3061=) c.9138C>A (p.Pro3046=) c.9291C>A (p.Pro3097=) c.8196C>A (p.Pro2732=) c.*70C>A (n.*70C>A) c.4380C>A (p.Pro1460=) c.3933C>A (p.Pro1311=) c.3270C>A (p.Pro1090=) c.7785C>A (p.Pro2595=) n.9177C>A n.9172C>A | |
| 5 | g.13776630G>A | CA359209292 | DNAH5 | c.9182C>T (p.Pro3061Leu) c.9137C>T (p.Pro3046Leu) c.9290C>T (p.Pro3097Leu) c.8195C>T (p.Pro2732Leu) c.*69C>T (n.*69C>T) c.4379C>T (p.Pro1460Leu) c.3932C>T (p.Pro1311Leu) c.3269C>T (p.Pro1090Leu) c.7784C>T (p.Pro2595Leu) n.9176C>T n.9171C>T | dbSNP gnomAD v4 |
| 5 | g.13776630G>C | CA359209289 | DNAH5 | c.9182C>G (p.Pro3061Arg) c.9137C>G (p.Pro3046Arg) c.9290C>G (p.Pro3097Arg) c.8195C>G (p.Pro2732Arg) c.*69C>G (n.*69C>G) c.4379C>G (p.Pro1460Arg) c.3932C>G (p.Pro1311Arg) c.3269C>G (p.Pro1090Arg) c.7784C>G (p.Pro2595Arg) n.9176C>G n.9171C>G | |
| 5 | g.13776630G= | CA1528435311 | DNAH5 | c.9182C= (p.Pro3061=) c.9137C= (p.Pro3046=) c.9290C= (p.Pro3097=) c.8195C= (p.Pro2732=) c.*69C= (n.*69C=) c.4379C= (p.Pro1460=) c.3932C= (p.Pro1311=) c.3269C= (p.Pro1090=) c.7784C= (p.Pro2595=) n.9176C= n.9171C= | |
| 5 | g.13776630G>T | CA359209286 | DNAH5 | c.9182C>A (p.Pro3061His) c.9137C>A (p.Pro3046His) c.9290C>A (p.Pro3097His) c.8195C>A (p.Pro2732His) c.*69C>A (n.*69C>A) c.4379C>A (p.Pro1460His) c.3932C>A (p.Pro1311His) c.3269C>A (p.Pro1090His) c.7784C>A (p.Pro2595His) n.9176C>A n.9171C>A | gnomAD v4 |
| 5 | g.13776631G>A | CA359209298 | DNAH5 | c.9181C>T (p.Pro3061Ser) c.9136C>T (p.Pro3046Ser) c.9289C>T (p.Pro3097Ser) c.8194C>T (p.Pro2732Ser) c.*68C>T (n.*68C>T) c.4378C>T (p.Pro1460Ser) c.3931C>T (p.Pro1311Ser) c.3268C>T (p.Pro1090Ser) c.7783C>T (p.Pro2595Ser) n.9175C>T n.9170C>T | |
| 5 | g.13776631G>C | CA359209301 | DNAH5 | c.9181C>G (p.Pro3061Ala) c.9136C>G (p.Pro3046Ala) c.9289C>G (p.Pro3097Ala) c.8194C>G (p.Pro2732Ala) c.*68C>G (n.*68C>G) c.4378C>G (p.Pro1460Ala) c.3931C>G (p.Pro1311Ala) c.3268C>G (p.Pro1090Ala) c.7783C>G (p.Pro2595Ala) n.9175C>G n.9170C>G | |
| 5 | g.13776631G>T | CA359209304 | DNAH5 | c.9181C>A (p.Pro3061Thr) c.9136C>A (p.Pro3046Thr) c.9289C>A (p.Pro3097Thr) c.8194C>A (p.Pro2732Thr) c.*68C>A (n.*68C>A) c.4378C>A (p.Pro1460Thr) c.3931C>A (p.Pro1311Thr) c.3268C>A (p.Pro1090Thr) c.7783C>A (p.Pro2595Thr) n.9175C>A n.9170C>A | |
| 5 | g.13776632G>A | CA443535691 | DNAH5 | c.9180C>T (p.Phe3060=) c.9135C>T (p.Phe3045=) c.9288C>T (p.Phe3096=) c.8193C>T (p.Phe2731=) c.*67C>T (n.*67C>T) c.4377C>T (p.Phe1459=) c.3930C>T (p.Phe1310=) c.3267C>T (p.Phe1089=) c.7782C>T (p.Phe2594=) n.9174C>T n.9169C>T | COSMIC |
| 5 | g.13776632G>C | CA359209307 | DNAH5 | c.9180C>G (p.Phe3060Leu) c.9135C>G (p.Phe3045Leu) c.9288C>G (p.Phe3096Leu) c.8193C>G (p.Phe2731Leu) c.*67C>G (n.*67C>G) c.4377C>G (p.Phe1459Leu) c.3930C>G (p.Phe1310Leu) c.3267C>G (p.Phe1089Leu) c.7782C>G (p.Phe2594Leu) n.9174C>G n.9169C>G | gnomAD v4 |
| 5 | g.13776632G>T | CA359209314 | DNAH5 | c.9180C>A (p.Phe3060Leu) c.9135C>A (p.Phe3045Leu) c.9288C>A (p.Phe3096Leu) c.8193C>A (p.Phe2731Leu) c.*67C>A (n.*67C>A) c.4377C>A (p.Phe1459Leu) c.3930C>A (p.Phe1310Leu) c.3267C>A (p.Phe1089Leu) c.7782C>A (p.Phe2594Leu) n.9174C>A n.9169C>A | |
| 5 | g.13776633A>C | CA359209317 | DNAH5 | c.9179T>G (p.Phe3060Cys) c.9134T>G (p.Phe3045Cys) c.9287T>G (p.Phe3096Cys) c.8192T>G (p.Phe2731Cys) c.*66T>G (n.*66T>G) c.4376T>G (p.Phe1459Cys) c.3929T>G (p.Phe1310Cys) c.3266T>G (p.Phe1089Cys) c.7781T>G (p.Phe2594Cys) n.9173T>G n.9168T>G | |
| 5 | g.13776633A>G | CA359209319 | DNAH5 | c.9179T>C (p.Phe3060Ser) c.9134T>C (p.Phe3045Ser) c.9287T>C (p.Phe3096Ser) c.8192T>C (p.Phe2731Ser) c.*66T>C (n.*66T>C) c.4376T>C (p.Phe1459Ser) c.3929T>C (p.Phe1310Ser) c.3266T>C (p.Phe1089Ser) c.7781T>C (p.Phe2594Ser) n.9173T>C n.9168T>C | |
| 5 | g.13776633A>T | CA359209320 | DNAH5 | c.9179T>A (p.Phe3060Tyr) c.9134T>A (p.Phe3045Tyr) c.9287T>A (p.Phe3096Tyr) c.8192T>A (p.Phe2731Tyr) c.*66T>A (n.*66T>A) c.4376T>A (p.Phe1459Tyr) c.3929T>A (p.Phe1310Tyr) c.3266T>A (p.Phe1089Tyr) c.7781T>A (p.Phe2594Tyr) n.9173T>A n.9168T>A | |
| 5 | g.13776634A>C | CA359209321 | DNAH5 | c.9178T>G (p.Phe3060Val) c.9133T>G (p.Phe3045Val) c.9286T>G (p.Phe3096Val) c.8191T>G (p.Phe2731Val) c.*65T>G (n.*65T>G) c.4375T>G (p.Phe1459Val) c.3928T>G (p.Phe1310Val) c.3265T>G (p.Phe1089Val) c.7780T>G (p.Phe2594Val) n.9172T>G n.9167T>G | |
| 5 | g.13776634A>G | CA359209322 | DNAH5 | c.9178T>C (p.Phe3060Leu) c.9133T>C (p.Phe3045Leu) c.9286T>C (p.Phe3096Leu) c.8191T>C (p.Phe2731Leu) c.*65T>C (n.*65T>C) c.4375T>C (p.Phe1459Leu) c.3928T>C (p.Phe1310Leu) c.3265T>C (p.Phe1089Leu) c.7780T>C (p.Phe2594Leu) n.9172T>C n.9167T>C | |
| 5 | g.13776634A>T | CA359209323 | DNAH5 | c.9178T>A (p.Phe3060Ile) c.9133T>A (p.Phe3045Ile) c.9286T>A (p.Phe3096Ile) c.8191T>A (p.Phe2731Ile) c.*65T>A (n.*65T>A) c.4375T>A (p.Phe1459Ile) c.3928T>A (p.Phe1310Ile) c.3265T>A (p.Phe1089Ile) c.7780T>A (p.Phe2594Ile) n.9172T>A n.9167T>A | |
| 5 | g.13776635T>A | CA359209324 | DNAH5 | c.9177A>T (p.Glu3059Asp) c.9132A>T (p.Glu3044Asp) c.9285A>T (p.Glu3095Asp) c.8190A>T (p.Glu2730Asp) c.*64A>T (n.*64A>T) c.4374A>T (p.Glu1458Asp) c.3927A>T (p.Glu1309Asp) c.3264A>T (p.Glu1088Asp) c.7779A>T (p.Glu2593Asp) n.9171A>T n.9166A>T | |
| 5 | g.13776635T>C | CA443535696 | DNAH5 | c.9177A>G (p.Glu3059=) c.9132A>G (p.Glu3044=) c.9285A>G (p.Glu3095=) c.8190A>G (p.Glu2730=) c.*64A>G (n.*64A>G) c.4374A>G (p.Glu1458=) c.3927A>G (p.Glu1309=) c.3264A>G (p.Glu1088=) c.7779A>G (p.Glu2593=) n.9171A>G n.9166A>G | |
| 5 | g.13776635T>G | CA359209326 | DNAH5 | c.9177A>C (p.Glu3059Asp) c.9132A>C (p.Glu3044Asp) c.9285A>C (p.Glu3095Asp) c.8190A>C (p.Glu2730Asp) c.*64A>C (n.*64A>C) c.4374A>C (p.Glu1458Asp) c.3927A>C (p.Glu1309Asp) c.3264A>C (p.Glu1088Asp) c.7779A>C (p.Glu2593Asp) n.9171A>C n.9166A>C | |
| 5 | g.13776636T>A | CA359209335 | DNAH5 | c.9176A>T (p.Glu3059Val) c.9131A>T (p.Glu3044Val) c.9284A>T (p.Glu3095Val) c.8189A>T (p.Glu2730Val) c.*63A>T (n.*63A>T) c.4373A>T (p.Glu1458Val) c.3926A>T (p.Glu1309Val) c.3263A>T (p.Glu1088Val) c.7778A>T (p.Glu2593Val) n.9170A>T n.9165A>T | |
| 5 | g.13776636T>C | CA359209338 | DNAH5 | c.9176A>G (p.Glu3059Gly) c.9131A>G (p.Glu3044Gly) c.9284A>G (p.Glu3095Gly) c.8189A>G (p.Glu2730Gly) c.*63A>G (n.*63A>G) c.4373A>G (p.Glu1458Gly) c.3926A>G (p.Glu1309Gly) c.3263A>G (p.Glu1088Gly) c.7778A>G (p.Glu2593Gly) n.9170A>G n.9165A>G | COSMIC |
| 5 | g.13776636T>G | CA359209329 | DNAH5 | c.9176A>C (p.Glu3059Ala) c.9131A>C (p.Glu3044Ala) c.9284A>C (p.Glu3095Ala) c.8189A>C (p.Glu2730Ala) c.*63A>C (n.*63A>C) c.4373A>C (p.Glu1458Ala) c.3926A>C (p.Glu1309Ala) c.3263A>C (p.Glu1088Ala) c.7778A>C (p.Glu2593Ala) n.9170A>C n.9165A>C | |
| 5 | g.13776637C>A | CA359209350 | DNAH5 | c.9175G>T (p.Glu3059Ter) c.9130G>T (p.Glu3044Ter) c.9283G>T (p.Glu3095Ter) c.8188G>T (p.Glu2730Ter) c.*62G>T (n.*62G>T) c.4372G>T (p.Glu1458Ter) c.3925G>T (p.Glu1309Ter) c.3262G>T (p.Glu1088Ter) c.7777G>T (p.Glu2593Ter) n.9169G>T n.9164G>T | |
| 5 | g.13776637C= | CA1528435315 | DNAH5 | c.9175G= (p.Glu3059=) c.9130G= (p.Glu3044=) c.9283G= (p.Glu3095=) c.8188G= (p.Glu2730=) c.*62G= (n.*62G=) c.4372G= (p.Glu1458=) c.3925G= (p.Glu1309=) c.3262G= (p.Glu1088=) c.7777G= (p.Glu2593=) n.9169G= n.9164G= | |
| 5 | g.13776637C>G | CA359209356 | DNAH5 | c.9175G>C (p.Glu3059Gln) c.9130G>C (p.Glu3044Gln) c.9283G>C (p.Glu3095Gln) c.8188G>C (p.Glu2730Gln) c.*62G>C (n.*62G>C) c.4372G>C (p.Glu1458Gln) c.3925G>C (p.Glu1309Gln) c.3262G>C (p.Glu1088Gln) c.7777G>C (p.Glu2593Gln) n.9169G>C n.9164G>C | |
| 5 | g.13776637C>T | CA359209359 | DNAH5 | c.9175G>A (p.Glu3059Lys) c.9130G>A (p.Glu3044Lys) c.9283G>A (p.Glu3095Lys) c.8188G>A (p.Glu2730Lys) c.*62G>A (n.*62G>A) c.4372G>A (p.Glu1458Lys) c.3925G>A (p.Glu1309Lys) c.3262G>A (p.Glu1088Lys) c.7777G>A (p.Glu2593Lys) n.9169G>A n.9164G>A | |
| 5 | g.13776638T>A | CA359209363 | DNAH5 | c.9174A>T (p.Lys3058Asn) c.9129A>T (p.Lys3043Asn) c.9282A>T (p.Lys3094Asn) c.8187A>T (p.Lys2729Asn) c.*61A>T (n.*61A>T) c.4371A>T (p.Lys1457Asn) c.3924A>T (p.Lys1308Asn) c.3261A>T (p.Lys1087Asn) c.7776A>T (p.Lys2592Asn) n.9168A>T n.9163A>T | |
| 5 | g.13776638T>C | CA443535703 | DNAH5 | c.9174A>G (p.Lys3058=) c.9129A>G (p.Lys3043=) c.9282A>G (p.Lys3094=) c.8187A>G (p.Lys2729=) c.*61A>G (n.*61A>G) c.4371A>G (p.Lys1457=) c.3924A>G (p.Lys1308=) c.3261A>G (p.Lys1087=) c.7776A>G (p.Lys2592=) n.9168A>G n.9163A>G | |
| 5 | g.13776638T>G | CA359209368 | DNAH5 | c.9174A>C (p.Lys3058Asn) c.9129A>C (p.Lys3043Asn) c.9282A>C (p.Lys3094Asn) c.8187A>C (p.Lys2729Asn) c.*61A>C (n.*61A>C) c.4371A>C (p.Lys1457Asn) c.3924A>C (p.Lys1308Asn) c.3261A>C (p.Lys1087Asn) c.7776A>C (p.Lys2592Asn) n.9168A>C n.9163A>C | |
| 5 | g.13776643dup | CA1073394401 | DNAH5 | c.9174dup (p.Glu3059ArgfsTer10) c.9129dup (p.Glu3044ArgfsTer10) c.9282dup (p.Glu3095ArgfsTer10) c.8187dup (p.Glu2730ArgfsTer10) c.*61dup (n.*61dup) c.4371dup (p.Glu1458ArgfsTer10) c.3924dup (p.Glu1309ArgfsTer10) c.3261dup (p.Glu1088ArgfsTer10) c.7776dup (p.Glu2593ArgfsTer10) n.9168dup n.9163dup | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776639T>A | CA359209370 | DNAH5 | c.9173A>T (p.Lys3058Ile) c.9128A>T (p.Lys3043Ile) c.9281A>T (p.Lys3094Ile) c.8186A>T (p.Lys2729Ile) c.*60A>T (n.*60A>T) c.4370A>T (p.Lys1457Ile) c.3923A>T (p.Lys1308Ile) c.3260A>T (p.Lys1087Ile) c.7775A>T (p.Lys2592Ile) n.9167A>T n.9162A>T | |
| 5 | g.13776639T>C | CA359209373 | DNAH5 | c.9173A>G (p.Lys3058Arg) c.9128A>G (p.Lys3043Arg) c.9281A>G (p.Lys3094Arg) c.8186A>G (p.Lys2729Arg) c.*60A>G (n.*60A>G) c.4370A>G (p.Lys1457Arg) c.3923A>G (p.Lys1308Arg) c.3260A>G (p.Lys1087Arg) c.7775A>G (p.Lys2592Arg) n.9167A>G n.9162A>G | |
| 5 | g.13776639T>G | CA359209375 | DNAH5 | c.9173A>C (p.Lys3058Thr) c.9128A>C (p.Lys3043Thr) c.9281A>C (p.Lys3094Thr) c.8186A>C (p.Lys2729Thr) c.*60A>C (n.*60A>C) c.4370A>C (p.Lys1457Thr) c.3923A>C (p.Lys1308Thr) c.3260A>C (p.Lys1087Thr) c.7775A>C (p.Lys2592Thr) n.9167A>C n.9162A>C | |
| 5 | g.13776640T>A | CA359209379 | DNAH5 | c.9172A>T (p.Lys3058Ter) c.9127A>T (p.Lys3043Ter) c.9280A>T (p.Lys3094Ter) c.8185A>T (p.Lys2729Ter) c.*59A>T (n.*59A>T) c.4369A>T (p.Lys1457Ter) c.3922A>T (p.Lys1308Ter) c.3259A>T (p.Lys1087Ter) c.7774A>T (p.Lys2592Ter) n.9166A>T n.9161A>T | |
| 5 | g.13776640T>C | CA359209384 | DNAH5 | c.9172A>G (p.Lys3058Glu) c.9127A>G (p.Lys3043Glu) c.9280A>G (p.Lys3094Glu) c.8185A>G (p.Lys2729Glu) c.*59A>G (n.*59A>G) c.4369A>G (p.Lys1457Glu) c.3922A>G (p.Lys1308Glu) c.3259A>G (p.Lys1087Glu) c.7774A>G (p.Lys2592Glu) n.9166A>G n.9161A>G | |
| 5 | g.13776640T>G | CA359209395 | DNAH5 | c.9172A>C (p.Lys3058Gln) c.9127A>C (p.Lys3043Gln) c.9280A>C (p.Lys3094Gln) c.8185A>C (p.Lys2729Gln) c.*59A>C (n.*59A>C) c.4369A>C (p.Lys1457Gln) c.3922A>C (p.Lys1308Gln) c.3259A>C (p.Lys1087Gln) c.7774A>C (p.Lys2592Gln) n.9166A>C n.9161A>C | |
| 5 | g.13776641T>A | CA359209402 | DNAH5 | c.9171A>T (p.Lys3057Asn) c.9126A>T (p.Lys3042Asn) c.9279A>T (p.Lys3093Asn) c.8184A>T (p.Lys2728Asn) c.*58A>T (n.*58A>T) c.4368A>T (p.Lys1456Asn) c.3921A>T (p.Lys1307Asn) c.3258A>T (p.Lys1086Asn) c.7773A>T (p.Lys2591Asn) n.9165A>T n.9160A>T | |
| 5 | g.13776641T>C | CA3202598 | DNAH5 | c.9171A>G (p.Lys3057=) c.9126A>G (p.Lys3042=) c.9279A>G (p.Lys3093=) c.8184A>G (p.Lys2728=) c.*58A>G (n.*58A>G) c.4368A>G (p.Lys1456=) c.3921A>G (p.Lys1307=) c.3258A>G (p.Lys1086=) c.7773A>G (p.Lys2591=) n.9165A>G n.9160A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776641T>G | CA359209408 | DNAH5 | c.9171A>C (p.Lys3057Asn) c.9126A>C (p.Lys3042Asn) c.9279A>C (p.Lys3093Asn) c.8184A>C (p.Lys2728Asn) c.*58A>C (n.*58A>C) c.4368A>C (p.Lys1456Asn) c.3921A>C (p.Lys1307Asn) c.3258A>C (p.Lys1086Asn) c.7773A>C (p.Lys2591Asn) n.9165A>C n.9160A>C | |
| 5 | g.13776641T= | CA1528435320 | DNAH5 | c.9171A= (p.Lys3057=) c.9126A= (p.Lys3042=) c.9279A= (p.Lys3093=) c.8184A= (p.Lys2728=) c.*58A= (n.*58A=) c.4368A= (p.Lys1456=) c.3921A= (p.Lys1307=) c.3258A= (p.Lys1086=) c.7773A= (p.Lys2591=) n.9165A= n.9160A= | |
| 5 | g.13776642T>A | CA359209414 | DNAH5 | c.9170A>T (p.Lys3057Ile) c.9125A>T (p.Lys3042Ile) c.9278A>T (p.Lys3093Ile) c.8183A>T (p.Lys2728Ile) c.*57A>T (n.*57A>T) c.4367A>T (p.Lys1456Ile) c.3920A>T (p.Lys1307Ile) c.3257A>T (p.Lys1086Ile) c.7772A>T (p.Lys2591Ile) n.9164A>T n.9159A>T | |
| 5 | g.13776642T>C | CA359209413 | DNAH5 | c.9170A>G (p.Lys3057Arg) c.9125A>G (p.Lys3042Arg) c.9278A>G (p.Lys3093Arg) c.8183A>G (p.Lys2728Arg) c.*57A>G (n.*57A>G) c.4367A>G (p.Lys1456Arg) c.3920A>G (p.Lys1307Arg) c.3257A>G (p.Lys1086Arg) c.7772A>G (p.Lys2591Arg) n.9164A>G n.9159A>G | gnomAD v4 COSMIC |
| 5 | g.13776642T>G | CA359209412 | DNAH5 | c.9170A>C (p.Lys3057Thr) c.9125A>C (p.Lys3042Thr) c.9278A>C (p.Lys3093Thr) c.8183A>C (p.Lys2728Thr) c.*57A>C (n.*57A>C) c.4367A>C (p.Lys1456Thr) c.3920A>C (p.Lys1307Thr) c.3257A>C (p.Lys1086Thr) c.7772A>C (p.Lys2591Thr) n.9164A>C n.9159A>C | |
| 5 | g.13776643T>A | CA359209415 | DNAH5 | c.9169A>T (p.Lys3057Ter) c.9124A>T (p.Lys3042Ter) c.9277A>T (p.Lys3093Ter) c.8182A>T (p.Lys2728Ter) c.*56A>T (n.*56A>T) c.4366A>T (p.Lys1456Ter) c.3919A>T (p.Lys1307Ter) c.3256A>T (p.Lys1086Ter) c.7771A>T (p.Lys2591Ter) n.9163A>T n.9158A>T | |
| 5 | g.13776643T>C | CA359209416 | DNAH5 | c.9169A>G (p.Lys3057Glu) c.9124A>G (p.Lys3042Glu) c.9277A>G (p.Lys3093Glu) c.8182A>G (p.Lys2728Glu) c.*56A>G (n.*56A>G) c.4366A>G (p.Lys1456Glu) c.3919A>G (p.Lys1307Glu) c.3256A>G (p.Lys1086Glu) c.7771A>G (p.Lys2591Glu) n.9163A>G n.9158A>G | |
| 5 | g.13776643T>G | CA359209419 | DNAH5 | c.9169A>C (p.Lys3057Gln) c.9124A>C (p.Lys3042Gln) c.9277A>C (p.Lys3093Gln) c.8182A>C (p.Lys2728Gln) c.*56A>C (n.*56A>C) c.4366A>C (p.Lys1456Gln) c.3919A>C (p.Lys1307Gln) c.3256A>C (p.Lys1086Gln) c.7771A>C (p.Lys2591Gln) n.9163A>C n.9158A>C | |
| 5 | g.13776644C>A | CA359209420 | DNAH5 | c.9168G>T (p.Met3056Ile) c.9123G>T (p.Met3041Ile) c.*55G>T (n.*55G>T) n.9239G>T c.9276G>T (p.Met3092Ile) c.8181G>T (p.Met2727Ile) c.4365G>T (p.Met1455Ile) c.3918G>T (p.Met1306Ile) c.3255G>T (p.Met1085Ile) c.7770G>T (p.Met2590Ile) n.9162G>T n.9157G>T | |
| 5 | g.13776644C>G | CA359209422 | DNAH5 | c.9168G>C (p.Met3056Ile) c.9123G>C (p.Met3041Ile) c.*55G>C (n.*55G>C) n.9239G>C c.9276G>C (p.Met3092Ile) c.8181G>C (p.Met2727Ile) c.4365G>C (p.Met1455Ile) c.3918G>C (p.Met1306Ile) c.3255G>C (p.Met1085Ile) c.7770G>C (p.Met2590Ile) n.9162G>C n.9157G>C | |
| 5 | g.13776644C>T | CA359209423 | DNAH5 | c.9168G>A (p.Met3056Ile) c.9123G>A (p.Met3041Ile) c.*55G>A (n.*55G>A) n.9239G>A c.9276G>A (p.Met3092Ile) c.8181G>A (p.Met2727Ile) c.4365G>A (p.Met1455Ile) c.3918G>A (p.Met1306Ile) c.3255G>A (p.Met1085Ile) c.7770G>A (p.Met2590Ile) n.9162G>A n.9157G>A | |
| 5 | g.13776645A>C | CA359209429 | DNAH5 | c.9167T>G (p.Met3056Arg) c.9122T>G (p.Met3041Arg) c.*54T>G (n.*54T>G) n.9238T>G c.9275T>G (p.Met3092Arg) c.8180T>G (p.Met2727Arg) c.4364T>G (p.Met1455Arg) c.3917T>G (p.Met1306Arg) c.3254T>G (p.Met1085Arg) c.7769T>G (p.Met2590Arg) n.9161T>G n.9156T>G | |
| 5 | g.13776645A>G | CA359209436 | DNAH5 | c.9167T>C (p.Met3056Thr) c.9122T>C (p.Met3041Thr) c.*54T>C (n.*54T>C) n.9238T>C c.9275T>C (p.Met3092Thr) c.8180T>C (p.Met2727Thr) c.4364T>C (p.Met1455Thr) c.3917T>C (p.Met1306Thr) c.3254T>C (p.Met1085Thr) c.7769T>C (p.Met2590Thr) n.9161T>C n.9156T>C | |
| 5 | g.13776645A>T | CA359209437 | DNAH5 | c.9167T>A (p.Met3056Lys) c.9122T>A (p.Met3041Lys) c.*54T>A (n.*54T>A) n.9238T>A c.9275T>A (p.Met3092Lys) c.8180T>A (p.Met2727Lys) c.4364T>A (p.Met1455Lys) c.3917T>A (p.Met1306Lys) c.3254T>A (p.Met1085Lys) c.7769T>A (p.Met2590Lys) n.9161T>A n.9156T>A | |
| 5 | g.13776646T>A | CA359209440 | DNAH5 | c.9166A>T (p.Met3056Leu) c.9121A>T (p.Met3041Leu) c.*53A>T (n.*53A>T) n.9237A>T c.9274A>T (p.Met3092Leu) c.8179A>T (p.Met2727Leu) c.4363A>T (p.Met1455Leu) c.3916A>T (p.Met1306Leu) c.3253A>T (p.Met1085Leu) c.7768A>T (p.Met2590Leu) n.9160A>T n.9155A>T | |
| 5 | g.13776646T>C | CA113937749 | DNAH5 | c.9166A>G (p.Met3056Val) c.9121A>G (p.Met3041Val) c.*53A>G (n.*53A>G) n.9237A>G c.9274A>G (p.Met3092Val) c.8179A>G (p.Met2727Val) c.4363A>G (p.Met1455Val) c.3916A>G (p.Met1306Val) c.3253A>G (p.Met1085Val) c.7768A>G (p.Met2590Val) n.9160A>G n.9155A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776646T>G | CA359209443 | DNAH5 | c.9166A>C (p.Met3056Leu) c.9121A>C (p.Met3041Leu) c.*53A>C (n.*53A>C) n.9237A>C c.9274A>C (p.Met3092Leu) c.8179A>C (p.Met2727Leu) c.4363A>C (p.Met1455Leu) c.3916A>C (p.Met1306Leu) c.3253A>C (p.Met1085Leu) c.7768A>C (p.Met2590Leu) n.9160A>C n.9155A>C | |
| 5 | g.13776646T= | CA1528435325 | DNAH5 | c.9166A= (p.Met3056=) c.9121A= (p.Met3041=) c.*53A= (n.*53A=) n.9237A= c.9274A= (p.Met3092=) c.8179A= (p.Met2727=) c.4363A= (p.Met1455=) c.3916A= (p.Met1306=) c.3253A= (p.Met1085=) c.7768A= (p.Met2590=) n.9160A= n.9155A= | |
| 5 | g.13776647G>A | CA443535713 | DNAH5 | c.9165C>T (p.Val3055=) c.9120C>T (p.Val3040=) c.*52C>T (n.*52C>T) n.9236C>T c.9273C>T (p.Val3091=) c.8178C>T (p.Val2726=) c.4362C>T (p.Val1454=) c.3915C>T (p.Val1305=) c.3252C>T (p.Val1084=) c.7767C>T (p.Val2589=) n.9159C>T n.9154C>T | ClinVar dbSNP |
| 5 | g.13776647G>C | CA443535716 | DNAH5 | c.9165C>G (p.Val3055=) c.9120C>G (p.Val3040=) c.*52C>G (n.*52C>G) n.9236C>G c.9273C>G (p.Val3091=) c.8178C>G (p.Val2726=) c.4362C>G (p.Val1454=) c.3915C>G (p.Val1305=) c.3252C>G (p.Val1084=) c.7767C>G (p.Val2589=) n.9159C>G n.9154C>G | |
| 5 | g.13776647G= | CA1528435330 | DNAH5 | c.9165C= (p.Val3055=) c.9120C= (p.Val3040=) c.*52C= (n.*52C=) n.9236C= c.9273C= (p.Val3091=) c.8178C= (p.Val2726=) c.4362C= (p.Val1454=) c.3915C= (p.Val1305=) c.3252C= (p.Val1084=) c.7767C= (p.Val2589=) n.9159C= n.9154C= | |
| 5 | g.13776647G>T | CA443535718 | DNAH5 | c.9165C>A (p.Val3055=) c.9120C>A (p.Val3040=) c.*52C>A (n.*52C>A) n.9236C>A c.9273C>A (p.Val3091=) c.8178C>A (p.Val2726=) c.4362C>A (p.Val1454=) c.3915C>A (p.Val1305=) c.3252C>A (p.Val1084=) c.7767C>A (p.Val2589=) n.9159C>A n.9154C>A | |
| 5 | g.13776648A>C | CA359209446 | DNAH5 | c.9164T>G (p.Val3055Gly) c.9119T>G (p.Val3040Gly) c.*51T>G (n.*51T>G) n.9235T>G c.9272T>G (p.Val3091Gly) c.8177T>G (p.Val2726Gly) c.4361T>G (p.Val1454Gly) c.3914T>G (p.Val1305Gly) c.3251T>G (p.Val1084Gly) c.7766T>G (p.Val2589Gly) n.9158T>G n.9153T>G | |
| 5 | g.13776648A>G | CA359209448 | DNAH5 | c.9164T>C (p.Val3055Ala) c.9119T>C (p.Val3040Ala) c.*51T>C (n.*51T>C) n.9235T>C c.9272T>C (p.Val3091Ala) c.8177T>C (p.Val2726Ala) c.4361T>C (p.Val1454Ala) c.3914T>C (p.Val1305Ala) c.3251T>C (p.Val1084Ala) c.7766T>C (p.Val2589Ala) n.9158T>C n.9153T>C | |
| 5 | g.13776648A>T | CA359209449 | DNAH5 | c.9164T>A (p.Val3055Asp) c.9119T>A (p.Val3040Asp) c.*51T>A (n.*51T>A) n.9235T>A c.9272T>A (p.Val3091Asp) c.8177T>A (p.Val2726Asp) c.4361T>A (p.Val1454Asp) c.3914T>A (p.Val1305Asp) c.3251T>A (p.Val1084Asp) c.7766T>A (p.Val2589Asp) n.9158T>A n.9153T>A | |
| 5 | g.13776649C>A | CA359209452 | DNAH5 | c.9163G>T (p.Val3055Phe) c.9118G>T (p.Val3040Phe) c.*50G>T (n.*50G>T) n.9234G>T c.9271G>T (p.Val3091Phe) c.8176G>T (p.Val2726Phe) c.4360G>T (p.Val1454Phe) c.3913G>T (p.Val1305Phe) c.3250G>T (p.Val1084Phe) c.7765G>T (p.Val2589Phe) n.9157G>T n.9152G>T | dbSNP |
| 5 | g.13776649C= | CA1528435332 | DNAH5 | c.9163G= (p.Val3055=) c.9118G= (p.Val3040=) c.*50G= (n.*50G=) n.9234G= c.9271G= (p.Val3091=) c.8176G= (p.Val2726=) c.4360G= (p.Val1454=) c.3913G= (p.Val1305=) c.3250G= (p.Val1084=) c.7765G= (p.Val2589=) n.9157G= n.9152G= | |
| 5 | g.13776649C>G | CA359209454 | DNAH5 | c.9163G>C (p.Val3055Leu) c.9118G>C (p.Val3040Leu) c.*50G>C (n.*50G>C) n.9234G>C c.9271G>C (p.Val3091Leu) c.8176G>C (p.Val2726Leu) c.4360G>C (p.Val1454Leu) c.3913G>C (p.Val1305Leu) c.3250G>C (p.Val1084Leu) c.7765G>C (p.Val2589Leu) n.9157G>C n.9152G>C | |
| 5 | g.13776649C>T | CA359209450 | DNAH5 | c.9163G>A (p.Val3055Ile) c.9118G>A (p.Val3040Ile) c.*50G>A (n.*50G>A) n.9234G>A c.9271G>A (p.Val3091Ile) c.8176G>A (p.Val2726Ile) c.4360G>A (p.Val1454Ile) c.3913G>A (p.Val1305Ile) c.3250G>A (p.Val1084Ile) c.7765G>A (p.Val2589Ile) n.9157G>A n.9152G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776650T>A | CA443535726 | DNAH5 | c.9162A>T (p.Ser3054=) c.9117A>T (p.Ser3039=) c.*49A>T (n.*49A>T) n.9233A>T c.9270A>T (p.Ser3090=) c.8175A>T (p.Ser2725=) c.4359A>T (p.Ser1453=) c.3912A>T (p.Ser1304=) c.3249A>T (p.Ser1083=) c.7764A>T (p.Ser2588=) n.9156A>T n.9151A>T | gnomAD v4 |
| 5 | g.13776650T>C | CA443535727 | DNAH5 | c.9162A>G (p.Ser3054=) c.9117A>G (p.Ser3039=) c.*49A>G (n.*49A>G) n.9233A>G c.9270A>G (p.Ser3090=) c.8175A>G (p.Ser2725=) c.4359A>G (p.Ser1453=) c.3912A>G (p.Ser1304=) c.3249A>G (p.Ser1083=) c.7764A>G (p.Ser2588=) n.9156A>G n.9151A>G | dbSNP |
| 5 | g.13776650T>G | CA443535728 | DNAH5 | c.9162A>C (p.Ser3054=) c.9117A>C (p.Ser3039=) c.*49A>C (n.*49A>C) n.9233A>C c.9270A>C (p.Ser3090=) c.8175A>C (p.Ser2725=) c.4359A>C (p.Ser1453=) c.3912A>C (p.Ser1304=) c.3249A>C (p.Ser1083=) c.7764A>C (p.Ser2588=) n.9156A>C n.9151A>C | |
| 5 | g.13776650T= | CA1528435334 | DNAH5 | c.9162A= (p.Ser3054=) c.9117A= (p.Ser3039=) c.*49A= (n.*49A=) n.9233A= c.9270A= (p.Ser3090=) c.8175A= (p.Ser2725=) c.4359A= (p.Ser1453=) c.3912A= (p.Ser1304=) c.3249A= (p.Ser1083=) c.7764A= (p.Ser2588=) n.9156A= n.9151A= | |
| 5 | g.13776651G>A | CA359209463 | DNAH5 | c.9161C>T (p.Ser3054Leu) c.9116C>T (p.Ser3039Leu) c.*48C>T (n.*48C>T) n.9232C>T c.9269C>T (p.Ser3090Leu) c.8174C>T (p.Ser2725Leu) c.4358C>T (p.Ser1453Leu) c.3911C>T (p.Ser1304Leu) c.3248C>T (p.Ser1083Leu) c.7763C>T (p.Ser2588Leu) n.9155C>T n.9150C>T | gnomAD v4 |
| 5 | g.13776651G>C | CA359209465 | DNAH5 | c.9161C>G (p.Ser3054Ter) c.9116C>G (p.Ser3039Ter) c.*48C>G (n.*48C>G) n.9232C>G c.9269C>G (p.Ser3090Ter) c.8174C>G (p.Ser2725Ter) c.4358C>G (p.Ser1453Ter) c.3911C>G (p.Ser1304Ter) c.3248C>G (p.Ser1083Ter) c.7763C>G (p.Ser2588Ter) n.9155C>G n.9150C>G | COSMIC |
| 5 | g.13776651G>T | CA359209467 | DNAH5 | c.9161C>A (p.Ser3054Ter) c.9116C>A (p.Ser3039Ter) c.*48C>A (n.*48C>A) n.9232C>A c.9269C>A (p.Ser3090Ter) c.8174C>A (p.Ser2725Ter) c.4358C>A (p.Ser1453Ter) c.3911C>A (p.Ser1304Ter) c.3248C>A (p.Ser1083Ter) c.7763C>A (p.Ser2588Ter) n.9155C>A n.9150C>A | |
| 5 | g.13776652A= | CA1528435338 | DNAH5 | c.9160T= (p.Ser3054=) c.9115T= (p.Ser3039=) c.*47T= (n.*47T=) n.9231T= c.9268T= (p.Ser3090=) c.8173T= (p.Ser2725=) c.4357T= (p.Ser1453=) c.3910T= (p.Ser1304=) c.3247T= (p.Ser1083=) c.7762T= (p.Ser2588=) n.9154T= n.9149T= | |
| 5 | g.13776652A>C | CA359209471 | DNAH5 | c.9160T>G (p.Ser3054Ala) c.9115T>G (p.Ser3039Ala) c.*47T>G (n.*47T>G) n.9231T>G c.9268T>G (p.Ser3090Ala) c.8173T>G (p.Ser2725Ala) c.4357T>G (p.Ser1453Ala) c.3910T>G (p.Ser1304Ala) c.3247T>G (p.Ser1083Ala) c.7762T>G (p.Ser2588Ala) n.9154T>G n.9149T>G | |
| 5 | g.13776652A>G | CA359209479 | DNAH5 | c.9160T>C (p.Ser3054Pro) c.9115T>C (p.Ser3039Pro) c.*47T>C (n.*47T>C) n.9231T>C c.9268T>C (p.Ser3090Pro) c.8173T>C (p.Ser2725Pro) c.4357T>C (p.Ser1453Pro) c.3910T>C (p.Ser1304Pro) c.3247T>C (p.Ser1083Pro) c.7762T>C (p.Ser2588Pro) n.9154T>C n.9149T>C | |
| 5 | g.13776652A>T | CA359209481 | DNAH5 | c.9160T>A (p.Ser3054Thr) c.9115T>A (p.Ser3039Thr) c.*47T>A (n.*47T>A) n.9231T>A c.9268T>A (p.Ser3090Thr) c.8173T>A (p.Ser2725Thr) c.4357T>A (p.Ser1453Thr) c.3910T>A (p.Ser1304Thr) c.3247T>A (p.Ser1083Thr) c.7762T>A (p.Ser2588Thr) n.9154T>A n.9149T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776653T>A | CA443535730 | DNAH5 | c.9159A>T (p.Ala3053=) c.9114A>T (p.Ala3038=) c.*46A>T (n.*46A>T) n.9230A>T c.9267A>T (p.Ala3089=) c.8172A>T (p.Ala2724=) c.4356A>T (p.Ala1452=) c.3909A>T (p.Ala1303=) c.3246A>T (p.Ala1082=) c.7761A>T (p.Ala2587=) n.9153A>T n.9148A>T | |
| 5 | g.13776653T>C | CA443535732 | DNAH5 | c.9159A>G (p.Ala3053=) c.9114A>G (p.Ala3038=) c.*46A>G (n.*46A>G) n.9230A>G c.9267A>G (p.Ala3089=) c.8172A>G (p.Ala2724=) c.4356A>G (p.Ala1452=) c.3909A>G (p.Ala1303=) c.3246A>G (p.Ala1082=) c.7761A>G (p.Ala2587=) n.9153A>G n.9148A>G | ClinVar gnomAD v4 COSMIC |
| 5 | g.13776653T>G | CA443535735 | DNAH5 | c.9159A>C (p.Ala3053=) c.9114A>C (p.Ala3038=) c.*46A>C (n.*46A>C) n.9230A>C c.9267A>C (p.Ala3089=) c.8172A>C (p.Ala2724=) c.4356A>C (p.Ala1452=) c.3909A>C (p.Ala1303=) c.3246A>C (p.Ala1082=) c.7761A>C (p.Ala2587=) n.9153A>C n.9148A>C | ClinVar |
| 5 | g.13776654G>A | CA359209482 | DNAH5 | c.9158C>T (p.Ala3053Val) c.9113C>T (p.Ala3038Val) c.*45C>T (n.*45C>T) n.9229C>T c.9266C>T (p.Ala3089Val) c.8171C>T (p.Ala2724Val) c.4355C>T (p.Ala1452Val) c.3908C>T (p.Ala1303Val) c.3245C>T (p.Ala1082Val) c.7760C>T (p.Ala2587Val) n.9152C>T n.9147C>T | |
| 5 | g.13776654G>C | CA359209484 | DNAH5 | c.9158C>G (p.Ala3053Gly) c.9113C>G (p.Ala3038Gly) c.*45C>G (n.*45C>G) n.9229C>G c.9266C>G (p.Ala3089Gly) c.8171C>G (p.Ala2724Gly) c.4355C>G (p.Ala1452Gly) c.3908C>G (p.Ala1303Gly) c.3245C>G (p.Ala1082Gly) c.7760C>G (p.Ala2587Gly) n.9152C>G n.9147C>G | |
| 5 | g.13776654G>T | CA359209490 | DNAH5 | c.9158C>A (p.Ala3053Glu) c.9113C>A (p.Ala3038Glu) c.*45C>A (n.*45C>A) n.9229C>A c.9266C>A (p.Ala3089Glu) c.8171C>A (p.Ala2724Glu) c.4355C>A (p.Ala1452Glu) c.3908C>A (p.Ala1303Glu) c.3245C>A (p.Ala1082Glu) c.7760C>A (p.Ala2587Glu) n.9152C>A n.9147C>A | |
| 5 | g.13776655C>A | CA359209492 | DNAH5 | c.9157G>T (p.Ala3053Ser) c.9112G>T (p.Ala3038Ser) c.*44G>T (n.*44G>T) n.9228G>T c.9265G>T (p.Ala3089Ser) c.8170G>T (p.Ala2724Ser) c.4354G>T (p.Ala1452Ser) c.3907G>T (p.Ala1303Ser) c.3244G>T (p.Ala1082Ser) c.7759G>T (p.Ala2587Ser) n.9151G>T n.9146G>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776655C= | CA1528435342 | DNAH5 | c.9157G= (p.Ala3053=) c.9112G= (p.Ala3038=) c.*44G= (n.*44G=) n.9228G= c.9265G= (p.Ala3089=) c.8170G= (p.Ala2724=) c.4354G= (p.Ala1452=) c.3907G= (p.Ala1303=) c.3244G= (p.Ala1082=) c.7759G= (p.Ala2587=) n.9151G= n.9146G= | |
| 5 | g.13776655C>G | CA359209493 | DNAH5 | c.9157G>C (p.Ala3053Pro) c.9112G>C (p.Ala3038Pro) c.*44G>C (n.*44G>C) n.9228G>C c.9265G>C (p.Ala3089Pro) c.8170G>C (p.Ala2724Pro) c.4354G>C (p.Ala1452Pro) c.3907G>C (p.Ala1303Pro) c.3244G>C (p.Ala1082Pro) c.7759G>C (p.Ala2587Pro) n.9151G>C n.9146G>C | |
| 5 | g.13776655C>T | CA359209495 | DNAH5 | c.9157G>A (p.Ala3053Thr) c.9112G>A (p.Ala3038Thr) c.*44G>A (n.*44G>A) n.9228G>A c.9265G>A (p.Ala3089Thr) c.8170G>A (p.Ala2724Thr) c.4354G>A (p.Ala1452Thr) c.3907G>A (p.Ala1303Thr) c.3244G>A (p.Ala1082Thr) c.7759G>A (p.Ala2587Thr) n.9151G>A n.9146G>A | ClinVar |
| 5 | g.13776656C>A | CA443535744 | DNAH5 | c.9156G>T (p.Leu3052=) c.9111G>T (p.Leu3037=) c.*43G>T (n.*43G>T) n.9227G>T c.9264G>T (p.Leu3088=) c.8169G>T (p.Leu2723=) c.4353G>T (p.Leu1451=) c.3906G>T (p.Leu1302=) c.3243G>T (p.Leu1081=) c.7758G>T (p.Leu2586=) n.9150G>T n.9145G>T | |
| 5 | g.13776656C= | CA1528435344 | DNAH5 | c.9156G= (p.Leu3052=) c.9111G= (p.Leu3037=) c.*43G= (n.*43G=) n.9227G= c.9264G= (p.Leu3088=) c.8169G= (p.Leu2723=) c.4353G= (p.Leu1451=) c.3906G= (p.Leu1302=) c.3243G= (p.Leu1081=) c.7758G= (p.Leu2586=) n.9150G= n.9145G= | |
| 5 | g.13776656C>G | CA443535745 | DNAH5 | c.9156G>C (p.Leu3052=) c.9111G>C (p.Leu3037=) c.*43G>C (n.*43G>C) n.9227G>C c.9264G>C (p.Leu3088=) c.8169G>C (p.Leu2723=) c.4353G>C (p.Leu1451=) c.3906G>C (p.Leu1302=) c.3243G>C (p.Leu1081=) c.7758G>C (p.Leu2586=) n.9150G>C n.9145G>C | |
| 5 | g.13776656C>T | CA443535746 | DNAH5 | c.9156G>A (p.Leu3052=) c.9111G>A (p.Leu3037=) c.*43G>A (n.*43G>A) n.9227G>A c.9264G>A (p.Leu3088=) c.8169G>A (p.Leu2723=) c.4353G>A (p.Leu1451=) c.3906G>A (p.Leu1302=) c.3243G>A (p.Leu1081=) c.7758G>A (p.Leu2586=) n.9150G>A n.9145G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776657A>C | CA359209503 | DNAH5 | c.9155T>G (p.Leu3052Arg) c.9110T>G (p.Leu3037Arg) c.*42T>G (n.*42T>G) n.9226T>G c.9263T>G (p.Leu3088Arg) c.8168T>G (p.Leu2723Arg) c.4352T>G (p.Leu1451Arg) c.3905T>G (p.Leu1302Arg) c.3242T>G (p.Leu1081Arg) c.7757T>G (p.Leu2586Arg) n.9149T>G n.9144T>G | |
| 5 | g.13776657A>G | CA359209505 | DNAH5 | c.9155T>C (p.Leu3052Pro) c.9110T>C (p.Leu3037Pro) c.*42T>C (n.*42T>C) n.9226T>C c.9263T>C (p.Leu3088Pro) c.8168T>C (p.Leu2723Pro) c.4352T>C (p.Leu1451Pro) c.3905T>C (p.Leu1302Pro) c.3242T>C (p.Leu1081Pro) c.7757T>C (p.Leu2586Pro) n.9149T>C n.9144T>C | |
| 5 | g.13776657A>T | CA359209501 | DNAH5 | c.9155T>A (p.Leu3052Gln) c.9110T>A (p.Leu3037Gln) c.*42T>A (n.*42T>A) n.9226T>A c.9263T>A (p.Leu3088Gln) c.8168T>A (p.Leu2723Gln) c.4352T>A (p.Leu1451Gln) c.3905T>A (p.Leu1302Gln) c.3242T>A (p.Leu1081Gln) c.7757T>A (p.Leu2586Gln) n.9149T>A n.9144T>A | |
| 5 | g.13776658G>A | CA443535750 | DNAH5 | c.9154C>T (p.Leu3052=) c.9109C>T (p.Leu3037=) c.*41C>T (n.*41C>T) n.9225C>T c.9262C>T (p.Leu3088=) c.8167C>T (p.Leu2723=) c.4351C>T (p.Leu1451=) c.3904C>T (p.Leu1302=) c.3241C>T (p.Leu1081=) c.7756C>T (p.Leu2586=) n.9148C>T n.9143C>T | dbSNP COSMIC |
| 5 | g.13776658G>C | CA359209510 | DNAH5 | c.9154C>G (p.Leu3052Val) c.9109C>G (p.Leu3037Val) c.*41C>G (n.*41C>G) n.9225C>G c.9262C>G (p.Leu3088Val) c.8167C>G (p.Leu2723Val) c.4351C>G (p.Leu1451Val) c.3904C>G (p.Leu1302Val) c.3241C>G (p.Leu1081Val) c.7756C>G (p.Leu2586Val) n.9148C>G n.9143C>G | |
| 5 | g.13776658G= | CA1528435347 | DNAH5 | c.9154C= (p.Leu3052=) c.9109C= (p.Leu3037=) c.*41C= (n.*41C=) n.9225C= c.9262C= (p.Leu3088=) c.8167C= (p.Leu2723=) c.4351C= (p.Leu1451=) c.3904C= (p.Leu1302=) c.3241C= (p.Leu1081=) c.7756C= (p.Leu2586=) n.9148C= n.9143C= | |
| 5 | g.13776658G>T | CA359209511 | DNAH5 | c.9154C>A (p.Leu3052Met) c.9109C>A (p.Leu3037Met) c.*41C>A (n.*41C>A) n.9225C>A c.9262C>A (p.Leu3088Met) c.8167C>A (p.Leu2723Met) c.4351C>A (p.Leu1451Met) c.3904C>A (p.Leu1302Met) c.3241C>A (p.Leu1081Met) c.7756C>A (p.Leu2586Met) n.9148C>A n.9143C>A | |
| 5 | g.13776659G>A | CA443535751 | DNAH5 | c.9153C>T (p.Asp3051=) c.9108C>T (p.Asp3036=) c.*40C>T (n.*40C>T) n.9224C>T c.9261C>T (p.Asp3087=) c.8166C>T (p.Asp2722=) c.4350C>T (p.Asp1450=) c.3903C>T (p.Asp1301=) c.3240C>T (p.Asp1080=) c.7755C>T (p.Asp2585=) n.9147C>T n.9142C>T | |
| 5 | g.13776659G>C | CA3202600 | DNAH5 | c.9153C>G (p.Asp3051Glu) c.9108C>G (p.Asp3036Glu) c.*40C>G (n.*40C>G) n.9224C>G c.9261C>G (p.Asp3087Glu) c.8166C>G (p.Asp2722Glu) c.4350C>G (p.Asp1450Glu) c.3903C>G (p.Asp1301Glu) c.3240C>G (p.Asp1080Glu) c.7755C>G (p.Asp2585Glu) n.9147C>G n.9142C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776659G= | CA1528435349 | DNAH5 | c.9153C= (p.Asp3051=) c.9108C= (p.Asp3036=) c.*40C= (n.*40C=) n.9224C= c.9261C= (p.Asp3087=) c.8166C= (p.Asp2722=) c.4350C= (p.Asp1450=) c.3903C= (p.Asp1301=) c.3240C= (p.Asp1080=) c.7755C= (p.Asp2585=) n.9147C= n.9142C= | |
| 5 | g.13776659G>T | CA3202599 | DNAH5 | c.9153C>A (p.Asp3051Glu) c.9108C>A (p.Asp3036Glu) c.*40C>A (n.*40C>A) n.9224C>A c.9261C>A (p.Asp3087Glu) c.8166C>A (p.Asp2722Glu) c.4350C>A (p.Asp1450Glu) c.3903C>A (p.Asp1301Glu) c.3240C>A (p.Asp1080Glu) c.7755C>A (p.Asp2585Glu) n.9147C>A n.9142C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776660T>A | CA359209517 | DNAH5 | c.9152A>T (p.Asp3051Val) c.9107A>T (p.Asp3036Val) c.*39A>T (n.*39A>T) n.9223A>T c.9260A>T (p.Asp3087Val) c.8165A>T (p.Asp2722Val) c.4349A>T (p.Asp1450Val) c.3902A>T (p.Asp1301Val) c.3239A>T (p.Asp1080Val) c.7754A>T (p.Asp2585Val) n.9146A>T n.9141A>T | gnomAD v4 |
| 5 | g.13776660T>C | CA359209516 | DNAH5 | c.9152A>G (p.Asp3051Gly) c.9107A>G (p.Asp3036Gly) c.*39A>G (n.*39A>G) n.9223A>G c.9260A>G (p.Asp3087Gly) c.8165A>G (p.Asp2722Gly) c.4349A>G (p.Asp1450Gly) c.3902A>G (p.Asp1301Gly) c.3239A>G (p.Asp1080Gly) c.7754A>G (p.Asp2585Gly) n.9146A>G n.9141A>G | |
| 5 | g.13776660T>G | CA359209514 | DNAH5 | c.9152A>C (p.Asp3051Ala) c.9107A>C (p.Asp3036Ala) c.*39A>C (n.*39A>C) n.9223A>C c.9260A>C (p.Asp3087Ala) c.8165A>C (p.Asp2722Ala) c.4349A>C (p.Asp1450Ala) c.3902A>C (p.Asp1301Ala) c.3239A>C (p.Asp1080Ala) c.7754A>C (p.Asp2585Ala) n.9146A>C n.9141A>C | |
| 5 | g.13776661C>A | CA359209522 | DNAH5 | c.9151G>T (p.Asp3051Tyr) c.9106G>T (p.Asp3036Tyr) c.*38G>T (n.*38G>T) n.9222G>T c.9259G>T (p.Asp3087Tyr) c.8164G>T (p.Asp2722Tyr) c.4348G>T (p.Asp1450Tyr) c.3901G>T (p.Asp1301Tyr) c.3238G>T (p.Asp1080Tyr) c.7753G>T (p.Asp2585Tyr) n.9145G>T n.9140G>T | gnomAD v4 |
| 5 | g.13776661C= | CA1528435353 | DNAH5 | c.9151G= (p.Asp3051=) c.9106G= (p.Asp3036=) c.*38G= (n.*38G=) n.9222G= c.9259G= (p.Asp3087=) c.8164G= (p.Asp2722=) c.4348G= (p.Asp1450=) c.3901G= (p.Asp1301=) c.3238G= (p.Asp1080=) c.7753G= (p.Asp2585=) n.9145G= n.9140G= | |
| 5 | g.13776661C>G | CA359209525 | DNAH5 | c.9151G>C (p.Asp3051His) c.9106G>C (p.Asp3036His) c.*38G>C (n.*38G>C) n.9222G>C c.9259G>C (p.Asp3087His) c.8164G>C (p.Asp2722His) c.4348G>C (p.Asp1450His) c.3901G>C (p.Asp1301His) c.3238G>C (p.Asp1080His) c.7753G>C (p.Asp2585His) n.9145G>C n.9140G>C | |
| 5 | g.13776661C>T | CA359209528 | DNAH5 | c.9151G>A (p.Asp3051Asn) c.9106G>A (p.Asp3036Asn) c.*38G>A (n.*38G>A) n.9222G>A c.9259G>A (p.Asp3087Asn) c.8164G>A (p.Asp2722Asn) c.4348G>A (p.Asp1450Asn) c.3901G>A (p.Asp1301Asn) c.3238G>A (p.Asp1080Asn) c.7753G>A (p.Asp2585Asn) n.9145G>A n.9140G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.13776662G>A | CA3202601 | DNAH5 | c.9150C>T (p.Ser3050=) c.9105C>T (p.Ser3035=) c.*37C>T (n.*37C>T) n.9221C>T c.9258C>T (p.Ser3086=) c.8163C>T (p.Ser2721=) c.4347C>T (p.Ser1449=) c.3900C>T (p.Ser1300=) c.3237C>T (p.Ser1079=) c.7752C>T (p.Ser2584=) n.9144C>T n.9139C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776662G>C | CA359209533 | DNAH5 | c.9150C>G (p.Ser3050Arg) c.9105C>G (p.Ser3035Arg) c.*37C>G (n.*37C>G) n.9221C>G c.9258C>G (p.Ser3086Arg) c.8163C>G (p.Ser2721Arg) c.4347C>G (p.Ser1449Arg) c.3900C>G (p.Ser1300Arg) c.3237C>G (p.Ser1079Arg) c.7752C>G (p.Ser2584Arg) n.9144C>G n.9139C>G | |
| 5 | g.13776662G= | CA1528435358 | DNAH5 | c.9150C= (p.Ser3050=) c.9105C= (p.Ser3035=) c.*37C= (n.*37C=) n.9221C= c.9258C= (p.Ser3086=) c.8163C= (p.Ser2721=) c.4347C= (p.Ser1449=) c.3900C= (p.Ser1300=) c.3237C= (p.Ser1079=) c.7752C= (p.Ser2584=) n.9144C= n.9139C= | |
| 5 | g.13776662G>T | CA359209537 | DNAH5 | c.9150C>A (p.Ser3050Arg) c.9105C>A (p.Ser3035Arg) c.*37C>A (n.*37C>A) n.9221C>A c.9258C>A (p.Ser3086Arg) c.8163C>A (p.Ser2721Arg) c.4347C>A (p.Ser1449Arg) c.3900C>A (p.Ser1300Arg) c.3237C>A (p.Ser1079Arg) c.7752C>A (p.Ser2584Arg) n.9144C>A n.9139C>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776663C>A | CA359209540 | DNAH5 | c.9149G>T (p.Ser3050Ile) c.9104G>T (p.Ser3035Ile) c.*36G>T (n.*36G>T) n.9220G>T c.9257G>T (p.Ser3086Ile) c.8162G>T (p.Ser2721Ile) c.4346G>T (p.Ser1449Ile) c.3899G>T (p.Ser1300Ile) c.3236G>T (p.Ser1079Ile) c.7751G>T (p.Ser2584Ile) n.9143G>T n.9138G>T | |
| 5 | g.13776663C>G | CA359209549 | DNAH5 | c.9149G>C (p.Ser3050Thr) c.9104G>C (p.Ser3035Thr) c.*36G>C (n.*36G>C) n.9220G>C c.9257G>C (p.Ser3086Thr) c.8162G>C (p.Ser2721Thr) c.4346G>C (p.Ser1449Thr) c.3899G>C (p.Ser1300Thr) c.3236G>C (p.Ser1079Thr) c.7751G>C (p.Ser2584Thr) n.9143G>C n.9138G>C | |
| 5 | g.13776663C>T | CA359209546 | DNAH5 | c.9149G>A (p.Ser3050Asn) c.9104G>A (p.Ser3035Asn) c.*36G>A (n.*36G>A) n.9220G>A c.9257G>A (p.Ser3086Asn) c.8162G>A (p.Ser2721Asn) c.4346G>A (p.Ser1449Asn) c.3899G>A (p.Ser1300Asn) c.3236G>A (p.Ser1079Asn) c.7751G>A (p.Ser2584Asn) n.9143G>A n.9138G>A | |
| 5 | g.13776664T>A | CA359209559 | DNAH5 | c.9148A>T (p.Ser3050Cys) c.9103A>T (p.Ser3035Cys) c.*35A>T (n.*35A>T) n.9219A>T c.9256A>T (p.Ser3086Cys) c.8161A>T (p.Ser2721Cys) c.4345A>T (p.Ser1449Cys) c.3898A>T (p.Ser1300Cys) c.3235A>T (p.Ser1079Cys) c.7750A>T (p.Ser2584Cys) n.9142A>T n.9137A>T | |
| 5 | g.13776664T>C | CA359209563 | DNAH5 | c.9148A>G (p.Ser3050Gly) c.9103A>G (p.Ser3035Gly) c.*35A>G (n.*35A>G) n.9219A>G c.9256A>G (p.Ser3086Gly) c.8161A>G (p.Ser2721Gly) c.4345A>G (p.Ser1449Gly) c.3898A>G (p.Ser1300Gly) c.3235A>G (p.Ser1079Gly) c.7750A>G (p.Ser2584Gly) n.9142A>G n.9137A>G | |
| 5 | g.13776664T>G | CA359209561 | DNAH5 | c.9148A>C (p.Ser3050Arg) c.9103A>C (p.Ser3035Arg) c.*35A>C (n.*35A>C) n.9219A>C c.9256A>C (p.Ser3086Arg) c.8161A>C (p.Ser2721Arg) c.4345A>C (p.Ser1449Arg) c.3898A>C (p.Ser1300Arg) c.3235A>C (p.Ser1079Arg) c.7750A>C (p.Ser2584Arg) n.9142A>C n.9137A>C | |
| 5 | g.13776665A= | CA1528435367 | DNAH5 | c.9147T= (p.Asn3049=) c.9102T= (p.Asn3034=) c.*34T= (n.*34T=) n.9218T= c.9255T= (p.Asn3085=) c.8160T= (p.Asn2720=) c.4344T= (p.Asn1448=) c.3897T= (p.Asn1299=) c.3234T= (p.Asn1078=) c.7749T= (p.Asn2583=) n.9141T= n.9136T= | |
| 5 | g.13776665A>C | CA359209568 | DNAH5 | c.9147T>G (p.Asn3049Lys) c.9102T>G (p.Asn3034Lys) c.*34T>G (n.*34T>G) n.9218T>G c.9255T>G (p.Asn3085Lys) c.8160T>G (p.Asn2720Lys) c.4344T>G (p.Asn1448Lys) c.3897T>G (p.Asn1299Lys) c.3234T>G (p.Asn1078Lys) c.7749T>G (p.Asn2583Lys) n.9141T>G n.9136T>G | |
| 5 | g.13776665A>G | CA10586903 | DNAH5 | c.9147T>C (p.Asn3049=) c.9102T>C (p.Asn3034=) c.*34T>C (n.*34T>C) n.9218T>C c.9255T>C (p.Asn3085=) c.8160T>C (p.Asn2720=) c.4344T>C (p.Asn1448=) c.3897T>C (p.Asn1299=) c.3234T>C (p.Asn1078=) c.7749T>C (p.Asn2583=) n.9141T>C n.9136T>C | ClinVar dbSNP |
| 5 | g.13776665A>T | CA359209578 | DNAH5 | c.9147T>A (p.Asn3049Lys) c.9102T>A (p.Asn3034Lys) c.*34T>A (n.*34T>A) n.9218T>A c.9255T>A (p.Asn3085Lys) c.8160T>A (p.Asn2720Lys) c.4344T>A (p.Asn1448Lys) c.3897T>A (p.Asn1299Lys) c.3234T>A (p.Asn1078Lys) c.7749T>A (p.Asn2583Lys) n.9141T>A n.9136T>A | |
| 5 | g.13776666T>A | CA113937766 | DNAH5 | c.9146A>T (p.Asn3049Ile) c.9101A>T (p.Asn3034Ile) c.*33A>T (n.*33A>T) n.9217A>T c.9254A>T (p.Asn3085Ile) c.8159A>T (p.Asn2720Ile) c.4343A>T (p.Asn1448Ile) c.3896A>T (p.Asn1299Ile) c.3233A>T (p.Asn1078Ile) c.7748A>T (p.Asn2583Ile) n.9140A>T n.9135A>T | dbSNP COSMIC |
| 5 | g.13776666T>C | CA359209585 | DNAH5 | c.9146A>G (p.Asn3049Ser) c.9101A>G (p.Asn3034Ser) c.*33A>G (n.*33A>G) n.9217A>G c.9254A>G (p.Asn3085Ser) c.8159A>G (p.Asn2720Ser) c.4343A>G (p.Asn1448Ser) c.3896A>G (p.Asn1299Ser) c.3233A>G (p.Asn1078Ser) c.7748A>G (p.Asn2583Ser) n.9140A>G n.9135A>G | |
| 5 | g.13776666T>G | CA359209590 | DNAH5 | c.9146A>C (p.Asn3049Thr) c.9101A>C (p.Asn3034Thr) c.*33A>C (n.*33A>C) n.9217A>C c.9254A>C (p.Asn3085Thr) c.8159A>C (p.Asn2720Thr) c.4343A>C (p.Asn1448Thr) c.3896A>C (p.Asn1299Thr) c.3233A>C (p.Asn1078Thr) c.7748A>C (p.Asn2583Thr) n.9140A>C n.9135A>C | |
| 5 | g.13776666T= | CA1528435374 | DNAH5 | c.9146A= (p.Asn3049=) c.9101A= (p.Asn3034=) c.*33A= (n.*33A=) n.9217A= c.9254A= (p.Asn3085=) c.8159A= (p.Asn2720=) c.4343A= (p.Asn1448=) c.3896A= (p.Asn1299=) c.3233A= (p.Asn1078=) c.7748A= (p.Asn2583=) n.9140A= n.9135A= | |
| 5 | g.13776667T>A | CA359209595 | DNAH5 | c.9145A>T (p.Asn3049Tyr) c.9100A>T (p.Asn3034Tyr) c.*32A>T (n.*32A>T) n.9216A>T c.9253A>T (p.Asn3085Tyr) c.8158A>T (p.Asn2720Tyr) c.4342A>T (p.Asn1448Tyr) c.3895A>T (p.Asn1299Tyr) c.3232A>T (p.Asn1078Tyr) c.7747A>T (p.Asn2583Tyr) n.9139A>T n.9134A>T | |
| 5 | g.13776667T>C | CA359209598 | DNAH5 | c.9145A>G (p.Asn3049Asp) c.9100A>G (p.Asn3034Asp) c.*32A>G (n.*32A>G) n.9216A>G c.9253A>G (p.Asn3085Asp) c.8158A>G (p.Asn2720Asp) c.4342A>G (p.Asn1448Asp) c.3895A>G (p.Asn1299Asp) c.3232A>G (p.Asn1078Asp) c.7747A>G (p.Asn2583Asp) n.9139A>G n.9134A>G | |
| 5 | g.13776667T>G | CA359209600 | DNAH5 | c.9145A>C (p.Asn3049His) c.9100A>C (p.Asn3034His) c.*32A>C (n.*32A>C) n.9216A>C c.9253A>C (p.Asn3085His) c.8158A>C (p.Asn2720His) c.4342A>C (p.Asn1448His) c.3895A>C (p.Asn1299His) c.3232A>C (p.Asn1078His) c.7747A>C (p.Asn2583His) n.9139A>C n.9134A>C | |
| 5 | g.13776668A>C | CA359209602 | DNAH5 | c.9144T>G (p.Ile3048Met) c.9099T>G (p.Ile3033Met) c.*31T>G (n.*31T>G) n.9215T>G c.9252T>G (p.Ile3084Met) c.8157T>G (p.Ile2719Met) c.4341T>G (p.Ile1447Met) c.3894T>G (p.Ile1298Met) c.3231T>G (p.Ile1077Met) c.7746T>G (p.Ile2582Met) n.9138T>G n.9133T>G | |
| 5 | g.13776668A>G | CA443535770 | DNAH5 | c.9144T>C (p.Ile3048=) c.9099T>C (p.Ile3033=) c.*31T>C (n.*31T>C) n.9215T>C c.9252T>C (p.Ile3084=) c.8157T>C (p.Ile2719=) c.4341T>C (p.Ile1447=) c.3894T>C (p.Ile1298=) c.3231T>C (p.Ile1077=) c.7746T>C (p.Ile2582=) n.9138T>C n.9133T>C | |
| 5 | g.13776668A>T | CA443535771 | DNAH5 | c.9144T>A (p.Ile3048=) c.9099T>A (p.Ile3033=) c.*31T>A (n.*31T>A) n.9215T>A c.9252T>A (p.Ile3084=) c.8157T>A (p.Ile2719=) c.4341T>A (p.Ile1447=) c.3894T>A (p.Ile1298=) c.3231T>A (p.Ile1077=) c.7746T>A (p.Ile2582=) n.9138T>A n.9133T>A | |
| 5 | g.13776677_13776685del | CA2673268735 | DNAH5 | c.9136_9144del (p.Asp3046_Ile3048del) c.9091_9099del (p.Asp3031_Ile3033del) c.*23_*31del (n.*23_*31del) n.9207_9215del c.9244_9252del (p.Asp3082_Ile3084del) c.8149_8157del (p.Asp2717_Ile2719del) c.4333_4341del (p.Asp1445_Ile1447del) c.3886_3894del (p.Asp1296_Ile1298del) c.3223_3231del (p.Asp1075_Ile1077del) c.7738_7746del (p.Asp2580_Ile2582del) n.9130_9138del n.9125_9133del | gnomAD v4 |
| 5 | g.13776669A>C | CA359209604 | DNAH5 | c.9143T>G (p.Ile3048Ser) c.9098T>G (p.Ile3033Ser) c.*30T>G (n.*30T>G) n.9214T>G c.9251T>G (p.Ile3084Ser) c.8156T>G (p.Ile2719Ser) c.4340T>G (p.Ile1447Ser) c.3893T>G (p.Ile1298Ser) c.3230T>G (p.Ile1077Ser) c.7745T>G (p.Ile2582Ser) n.9137T>G n.9132T>G | |
| 5 | g.13776669A>G | CA359209606 | DNAH5 | c.9143T>C (p.Ile3048Thr) c.9098T>C (p.Ile3033Thr) c.*30T>C (n.*30T>C) n.9214T>C c.9251T>C (p.Ile3084Thr) c.8156T>C (p.Ile2719Thr) c.4340T>C (p.Ile1447Thr) c.3893T>C (p.Ile1298Thr) c.3230T>C (p.Ile1077Thr) c.7745T>C (p.Ile2582Thr) n.9137T>C n.9132T>C | |
| 5 | g.13776669A>T | CA359209611 | DNAH5 | c.9143T>A (p.Ile3048Asn) c.9098T>A (p.Ile3033Asn) c.*30T>A (n.*30T>A) n.9214T>A c.9251T>A (p.Ile3084Asn) c.8156T>A (p.Ile2719Asn) c.4340T>A (p.Ile1447Asn) c.3893T>A (p.Ile1298Asn) c.3230T>A (p.Ile1077Asn) c.7745T>A (p.Ile2582Asn) n.9137T>A n.9132T>A | |
| 5 | g.13776670T>A | CA359209625 | DNAH5 | c.9142A>T (p.Ile3048Phe) c.9097A>T (p.Ile3033Phe) c.*29A>T (n.*29A>T) n.9213A>T c.9250A>T (p.Ile3084Phe) c.8155A>T (p.Ile2719Phe) c.4339A>T (p.Ile1447Phe) c.3892A>T (p.Ile1298Phe) c.3229A>T (p.Ile1077Phe) c.7744A>T (p.Ile2582Phe) n.9136A>T n.9131A>T | |
| 5 | g.13776670T>C | CA359209632 | DNAH5 | c.9142A>G (p.Ile3048Val) c.9097A>G (p.Ile3033Val) c.*29A>G (n.*29A>G) n.9213A>G c.9250A>G (p.Ile3084Val) c.8155A>G (p.Ile2719Val) c.4339A>G (p.Ile1447Val) c.3892A>G (p.Ile1298Val) c.3229A>G (p.Ile1077Val) c.7744A>G (p.Ile2582Val) n.9136A>G n.9131A>G | |
| 5 | g.13776670T>G | CA359209629 | DNAH5 | c.9142A>C (p.Ile3048Leu) c.9097A>C (p.Ile3033Leu) c.*29A>C (n.*29A>C) n.9213A>C c.9250A>C (p.Ile3084Leu) c.8155A>C (p.Ile2719Leu) c.4339A>C (p.Ile1447Leu) c.3892A>C (p.Ile1298Leu) c.3229A>C (p.Ile1077Leu) c.7744A>C (p.Ile2582Leu) n.9136A>C n.9131A>C | |
| 5 | g.13776671T>A | CA359209642 | DNAH5 | c.9141A>T (p.Glu3047Asp) c.9096A>T (p.Glu3032Asp) c.*28A>T (n.*28A>T) n.9212A>T c.9249A>T (p.Glu3083Asp) c.8154A>T (p.Glu2718Asp) c.4338A>T (p.Glu1446Asp) c.3891A>T (p.Glu1297Asp) c.3228A>T (p.Glu1076Asp) c.7743A>T (p.Glu2581Asp) n.9135A>T n.9130A>T | |
| 5 | g.13776671T>C | CA443535773 | DNAH5 | c.9141A>G (p.Glu3047=) c.9096A>G (p.Glu3032=) c.*28A>G (n.*28A>G) n.9212A>G c.9249A>G (p.Glu3083=) c.8154A>G (p.Glu2718=) c.4338A>G (p.Glu1446=) c.3891A>G (p.Glu1297=) c.3228A>G (p.Glu1076=) c.7743A>G (p.Glu2581=) n.9135A>G n.9130A>G | |
| 5 | g.13776671T>G | CA359209646 | DNAH5 | c.9141A>C (p.Glu3047Asp) c.9096A>C (p.Glu3032Asp) c.*28A>C (n.*28A>C) n.9212A>C c.9249A>C (p.Glu3083Asp) c.8154A>C (p.Glu2718Asp) c.4338A>C (p.Glu1446Asp) c.3891A>C (p.Glu1297Asp) c.3228A>C (p.Glu1076Asp) c.7743A>C (p.Glu2581Asp) n.9135A>C n.9130A>C | |
| 5 | g.13776672T>A | CA359209650 | DNAH5 | c.9140A>T (p.Glu3047Val) c.9095A>T (p.Glu3032Val) c.*27A>T (n.*27A>T) n.9211A>T c.9248A>T (p.Glu3083Val) c.8153A>T (p.Glu2718Val) c.4337A>T (p.Glu1446Val) c.3890A>T (p.Glu1297Val) c.3227A>T (p.Glu1076Val) c.7742A>T (p.Glu2581Val) n.9134A>T n.9129A>T | |
| 5 | g.13776672T>C | CA359209657 | DNAH5 | c.9140A>G (p.Glu3047Gly) c.9095A>G (p.Glu3032Gly) c.*27A>G (n.*27A>G) n.9211A>G c.9248A>G (p.Glu3083Gly) c.8153A>G (p.Glu2718Gly) c.4337A>G (p.Glu1446Gly) c.3890A>G (p.Glu1297Gly) c.3227A>G (p.Glu1076Gly) c.7742A>G (p.Glu2581Gly) n.9134A>G n.9129A>G | |
| 5 | g.13776672T>G | CA359209659 | DNAH5 | c.9140A>C (p.Glu3047Ala) c.9095A>C (p.Glu3032Ala) c.*27A>C (n.*27A>C) n.9211A>C c.9248A>C (p.Glu3083Ala) c.8153A>C (p.Glu2718Ala) c.4337A>C (p.Glu1446Ala) c.3890A>C (p.Glu1297Ala) c.3227A>C (p.Glu1076Ala) c.7742A>C (p.Glu2581Ala) n.9134A>C n.9129A>C | gnomAD v4 |
| 5 | g.13776673C>A | CA359209662 | DNAH5 | c.9139G>T (p.Glu3047Ter) c.9094G>T (p.Glu3032Ter) c.*26G>T (n.*26G>T) n.9210G>T c.9247G>T (p.Glu3083Ter) c.8152G>T (p.Glu2718Ter) c.4336G>T (p.Glu1446Ter) c.3889G>T (p.Glu1297Ter) c.3226G>T (p.Glu1076Ter) c.7741G>T (p.Glu2581Ter) n.9133G>T n.9128G>T | ClinVar |
| 5 | g.13776673C>G | CA359209663 | DNAH5 | c.9139G>C (p.Glu3047Gln) c.9094G>C (p.Glu3032Gln) c.*26G>C (n.*26G>C) n.9210G>C c.9247G>C (p.Glu3083Gln) c.8152G>C (p.Glu2718Gln) c.4336G>C (p.Glu1446Gln) c.3889G>C (p.Glu1297Gln) c.3226G>C (p.Glu1076Gln) c.7741G>C (p.Glu2581Gln) n.9133G>C n.9128G>C | |
| 5 | g.13776673C>T | CA359209667 | DNAH5 | c.9139G>A (p.Glu3047Lys) c.9094G>A (p.Glu3032Lys) c.*26G>A (n.*26G>A) n.9210G>A c.9247G>A (p.Glu3083Lys) c.8152G>A (p.Glu2718Lys) c.4336G>A (p.Glu1446Lys) c.3889G>A (p.Glu1297Lys) c.3226G>A (p.Glu1076Lys) c.7741G>A (p.Glu2581Lys) n.9133G>A n.9128G>A | COSMIC |
| 5 | g.13776674A>C | CA359209669 | DNAH5 | c.9138T>G (p.Asp3046Glu) c.9093T>G (p.Asp3031Glu) c.*25T>G (n.*25T>G) n.9209T>G c.9246T>G (p.Asp3082Glu) c.8151T>G (p.Asp2717Glu) c.4335T>G (p.Asp1445Glu) c.3888T>G (p.Asp1296Glu) c.3225T>G (p.Asp1075Glu) c.7740T>G (p.Asp2580Glu) n.9132T>G n.9127T>G | gnomAD v4 |
| 5 | g.13776674A>G | CA443535781 | DNAH5 | c.9138T>C (p.Asp3046=) c.9093T>C (p.Asp3031=) c.*25T>C (n.*25T>C) n.9209T>C c.9246T>C (p.Asp3082=) c.8151T>C (p.Asp2717=) c.4335T>C (p.Asp1445=) c.3888T>C (p.Asp1296=) c.3225T>C (p.Asp1075=) c.7740T>C (p.Asp2580=) n.9132T>C n.9127T>C | COSMIC |
| 5 | g.13776674A>T | CA359209670 | DNAH5 | c.9138T>A (p.Asp3046Glu) c.9093T>A (p.Asp3031Glu) c.*25T>A (n.*25T>A) n.9209T>A c.9246T>A (p.Asp3082Glu) c.8151T>A (p.Asp2717Glu) c.4335T>A (p.Asp1445Glu) c.3888T>A (p.Asp1296Glu) c.3225T>A (p.Asp1075Glu) c.7740T>A (p.Asp2580Glu) n.9132T>A n.9127T>A | |
| 5 | g.13776675T>A | CA359209673 | DNAH5 | c.9137A>T (p.Asp3046Val) c.9092A>T (p.Asp3031Val) c.*24A>T (n.*24A>T) n.9208A>T c.9245A>T (p.Asp3082Val) c.8150A>T (p.Asp2717Val) c.4334A>T (p.Asp1445Val) c.3887A>T (p.Asp1296Val) c.3224A>T (p.Asp1075Val) c.7739A>T (p.Asp2580Val) n.9131A>T n.9126A>T | |
| 5 | g.13776675T>C | CA359209672 | DNAH5 | c.9137A>G (p.Asp3046Gly) c.9092A>G (p.Asp3031Gly) c.*24A>G (n.*24A>G) n.9208A>G c.9245A>G (p.Asp3082Gly) c.8150A>G (p.Asp2717Gly) c.4334A>G (p.Asp1445Gly) c.3887A>G (p.Asp1296Gly) c.3224A>G (p.Asp1075Gly) c.7739A>G (p.Asp2580Gly) n.9131A>G n.9126A>G | gnomAD v4 |
| 5 | g.13776675T>G | CA359209671 | DNAH5 | c.9137A>C (p.Asp3046Ala) c.9092A>C (p.Asp3031Ala) c.*24A>C (n.*24A>C) n.9208A>C c.9245A>C (p.Asp3082Ala) c.8150A>C (p.Asp2717Ala) c.4334A>C (p.Asp1445Ala) c.3887A>C (p.Asp1296Ala) c.3224A>C (p.Asp1075Ala) c.7739A>C (p.Asp2580Ala) n.9131A>C n.9126A>C | |
| 5 | g.13776676C>A | CA359209677 | DNAH5 | c.9136G>T (p.Asp3046Tyr) c.9091G>T (p.Asp3031Tyr) c.*23G>T (n.*23G>T) n.9207G>T c.9244G>T (p.Asp3082Tyr) c.8149G>T (p.Asp2717Tyr) c.4333G>T (p.Asp1445Tyr) c.3886G>T (p.Asp1296Tyr) c.3223G>T (p.Asp1075Tyr) c.7738G>T (p.Asp2580Tyr) n.9130G>T n.9125G>T | |
| 5 | g.13776676C>G | CA359209679 | DNAH5 | c.9136G>C (p.Asp3046His) c.9091G>C (p.Asp3031His) c.*23G>C (n.*23G>C) n.9207G>C c.9244G>C (p.Asp3082His) c.8149G>C (p.Asp2717His) c.4333G>C (p.Asp1445His) c.3886G>C (p.Asp1296His) c.3223G>C (p.Asp1075His) c.7738G>C (p.Asp2580His) n.9130G>C n.9125G>C | |
| 5 | g.13776676C>T | CA359209682 | DNAH5 | c.9136G>A (p.Asp3046Asn) c.9091G>A (p.Asp3031Asn) c.*23G>A (n.*23G>A) n.9207G>A c.9244G>A (p.Asp3082Asn) c.8149G>A (p.Asp2717Asn) c.4333G>A (p.Asp1445Asn) c.3886G>A (p.Asp1296Asn) c.3223G>A (p.Asp1075Asn) c.7738G>A (p.Asp2580Asn) n.9130G>A n.9125G>A | |
| 5 | g.13776677A>C | CA359209685 | DNAH5 | c.9135T>G (p.Ile3045Met) c.9090T>G (p.Ile3030Met) c.*22T>G (n.*22T>G) n.9206T>G c.9243T>G (p.Ile3081Met) c.8148T>G (p.Ile2716Met) c.4332T>G (p.Ile1444Met) c.3885T>G (p.Ile1295Met) c.3222T>G (p.Ile1074Met) c.7737T>G (p.Ile2579Met) n.9129T>G n.9124T>G | gnomAD v4 |
| 5 | g.13776677A>G | CA443535791 | DNAH5 | c.9135T>C (p.Ile3045=) c.9090T>C (p.Ile3030=) c.*22T>C (n.*22T>C) n.9206T>C c.9243T>C (p.Ile3081=) c.8148T>C (p.Ile2716=) c.4332T>C (p.Ile1444=) c.3885T>C (p.Ile1295=) c.3222T>C (p.Ile1074=) c.7737T>C (p.Ile2579=) n.9129T>C n.9124T>C | |
| 5 | g.13776677A>T | CA443535790 | DNAH5 | c.9135T>A (p.Ile3045=) c.9090T>A (p.Ile3030=) c.*22T>A (n.*22T>A) n.9206T>A c.9243T>A (p.Ile3081=) c.8148T>A (p.Ile2716=) c.4332T>A (p.Ile1444=) c.3885T>A (p.Ile1295=) c.3222T>A (p.Ile1074=) c.7737T>A (p.Ile2579=) n.9129T>A n.9124T>A | |
| 5 | g.13776678A= | CA1528435381 | DNAH5 | c.9134T= (p.Ile3045=) c.9089T= (p.Ile3030=) c.*21T= (n.*21T=) n.9205T= c.9242T= (p.Ile3081=) c.8147T= (p.Ile2716=) c.4331T= (p.Ile1444=) c.3884T= (p.Ile1295=) c.3221T= (p.Ile1074=) c.7736T= (p.Ile2579=) n.9128T= n.9123T= | |
| 5 | g.13776678A>C | CA359209689 | DNAH5 | c.9134T>G (p.Ile3045Ser) c.9089T>G (p.Ile3030Ser) c.*21T>G (n.*21T>G) n.9205T>G c.9242T>G (p.Ile3081Ser) c.8147T>G (p.Ile2716Ser) c.4331T>G (p.Ile1444Ser) c.3884T>G (p.Ile1295Ser) c.3221T>G (p.Ile1074Ser) c.7736T>G (p.Ile2579Ser) n.9128T>G n.9123T>G | |
| 5 | g.13776678A>G | CA359209692 | DNAH5 | c.9134T>C (p.Ile3045Thr) c.9089T>C (p.Ile3030Thr) c.*21T>C (n.*21T>C) n.9205T>C c.9242T>C (p.Ile3081Thr) c.8147T>C (p.Ile2716Thr) c.4331T>C (p.Ile1444Thr) c.3884T>C (p.Ile1295Thr) c.3221T>C (p.Ile1074Thr) c.7736T>C (p.Ile2579Thr) n.9128T>C n.9123T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776678A>T | CA359209696 | DNAH5 | c.9134T>A (p.Ile3045Asn) c.9089T>A (p.Ile3030Asn) c.*21T>A (n.*21T>A) n.9205T>A c.9242T>A (p.Ile3081Asn) c.8147T>A (p.Ile2716Asn) c.4331T>A (p.Ile1444Asn) c.3884T>A (p.Ile1295Asn) c.3221T>A (p.Ile1074Asn) c.7736T>A (p.Ile2579Asn) n.9128T>A n.9123T>A | |
| 5 | g.13776679T>A | CA359209699 | DNAH5 | c.9133A>T (p.Ile3045Phe) c.9088A>T (p.Ile3030Phe) c.*20A>T (n.*20A>T) n.9204A>T c.9241A>T (p.Ile3081Phe) c.8146A>T (p.Ile2716Phe) c.4330A>T (p.Ile1444Phe) c.3883A>T (p.Ile1295Phe) c.3220A>T (p.Ile1074Phe) c.7735A>T (p.Ile2579Phe) n.9127A>T n.9122A>T | |
| 5 | g.13776679T>C | CA359209708 | DNAH5 | c.9133A>G (p.Ile3045Val) c.9088A>G (p.Ile3030Val) c.*20A>G (n.*20A>G) n.9204A>G c.9241A>G (p.Ile3081Val) c.8146A>G (p.Ile2716Val) c.4330A>G (p.Ile1444Val) c.3883A>G (p.Ile1295Val) c.3220A>G (p.Ile1074Val) c.7735A>G (p.Ile2579Val) n.9127A>G n.9122A>G | dbSNP gnomAD v4 |
| 5 | g.13776679T>G | CA359209710 | DNAH5 | c.9133A>C (p.Ile3045Leu) c.9088A>C (p.Ile3030Leu) c.*20A>C (n.*20A>C) n.9204A>C c.9241A>C (p.Ile3081Leu) c.8146A>C (p.Ile2716Leu) c.4330A>C (p.Ile1444Leu) c.3883A>C (p.Ile1295Leu) c.3220A>C (p.Ile1074Leu) c.7735A>C (p.Ile2579Leu) n.9127A>C n.9122A>C | |
| 5 | g.13776679T= | CA1528435384 | DNAH5 | c.9133A= (p.Ile3045=) c.9088A= (p.Ile3030=) c.*20A= (n.*20A=) n.9204A= c.9241A= (p.Ile3081=) c.8146A= (p.Ile2716=) c.4330A= (p.Ile1444=) c.3883A= (p.Ile1295=) c.3220A= (p.Ile1074=) c.7735A= (p.Ile2579=) n.9127A= n.9122A= | |
| 5 | g.13776680T>A | CA359209712 | DNAH5 | c.9132A>T (p.Glu3044Asp) c.9087A>T (p.Glu3029Asp) c.*19A>T (n.*19A>T) n.9203A>T c.9240A>T (p.Glu3080Asp) c.8145A>T (p.Glu2715Asp) c.4329A>T (p.Glu1443Asp) c.3882A>T (p.Glu1294Asp) c.3219A>T (p.Glu1073Asp) c.7734A>T (p.Glu2578Asp) n.9126A>T n.9121A>T | |
| 5 | g.13776680T>C | CA443535796 | DNAH5 | c.9132A>G (p.Glu3044=) c.9087A>G (p.Glu3029=) c.*19A>G (n.*19A>G) n.9203A>G c.9240A>G (p.Glu3080=) c.8145A>G (p.Glu2715=) c.4329A>G (p.Glu1443=) c.3882A>G (p.Glu1294=) c.3219A>G (p.Glu1073=) c.7734A>G (p.Glu2578=) n.9126A>G n.9121A>G | |
| 5 | g.13776680T>G | CA359209714 | DNAH5 | c.9132A>C (p.Glu3044Asp) c.9087A>C (p.Glu3029Asp) c.*19A>C (n.*19A>C) n.9203A>C c.9240A>C (p.Glu3080Asp) c.8145A>C (p.Glu2715Asp) c.4329A>C (p.Glu1443Asp) c.3882A>C (p.Glu1294Asp) c.3219A>C (p.Glu1073Asp) c.7734A>C (p.Glu2578Asp) n.9126A>C n.9121A>C | |
| 5 | g.13776681T>A | CA359209721 | DNAH5 | c.9131A>T (p.Glu3044Val) c.9086A>T (p.Glu3029Val) c.*18A>T (n.*18A>T) n.9202A>T c.9239A>T (p.Glu3080Val) c.8144A>T (p.Glu2715Val) c.4328A>T (p.Glu1443Val) c.3881A>T (p.Glu1294Val) c.3218A>T (p.Glu1073Val) c.7733A>T (p.Glu2578Val) n.9125A>T n.9120A>T | |
| 5 | g.13776681T>C | CA359209717 | DNAH5 | c.9131A>G (p.Glu3044Gly) c.9086A>G (p.Glu3029Gly) c.*18A>G (n.*18A>G) n.9202A>G c.9239A>G (p.Glu3080Gly) c.8144A>G (p.Glu2715Gly) c.4328A>G (p.Glu1443Gly) c.3881A>G (p.Glu1294Gly) c.3218A>G (p.Glu1073Gly) c.7733A>G (p.Glu2578Gly) n.9125A>G n.9120A>G | |
| 5 | g.13776681T>G | CA359209715 | DNAH5 | c.9131A>C (p.Glu3044Ala) c.9086A>C (p.Glu3029Ala) c.*18A>C (n.*18A>C) n.9202A>C c.9239A>C (p.Glu3080Ala) c.8144A>C (p.Glu2715Ala) c.4328A>C (p.Glu1443Ala) c.3881A>C (p.Glu1294Ala) c.3218A>C (p.Glu1073Ala) c.7733A>C (p.Glu2578Ala) n.9125A>C n.9120A>C | |
| 5 | g.13776682C>A | CA359209725 | DNAH5 | c.9130G>T (p.Glu3044Ter) c.9085G>T (p.Glu3029Ter) c.*17G>T (n.*17G>T) n.9201G>T c.9238G>T (p.Glu3080Ter) c.8143G>T (p.Glu2715Ter) c.4327G>T (p.Glu1443Ter) c.3880G>T (p.Glu1294Ter) c.3217G>T (p.Glu1073Ter) c.7732G>T (p.Glu2578Ter) n.9124G>T n.9119G>T | |
| 5 | g.13776682C>G | CA359209729 | DNAH5 | c.9130G>C (p.Glu3044Gln) c.9085G>C (p.Glu3029Gln) c.*17G>C (n.*17G>C) n.9201G>C c.9238G>C (p.Glu3080Gln) c.8143G>C (p.Glu2715Gln) c.4327G>C (p.Glu1443Gln) c.3880G>C (p.Glu1294Gln) c.3217G>C (p.Glu1073Gln) c.7732G>C (p.Glu2578Gln) n.9124G>C n.9119G>C | |
| 5 | g.13776682C>T | CA359209733 | DNAH5 | c.9130G>A (p.Glu3044Lys) c.9085G>A (p.Glu3029Lys) c.*17G>A (n.*17G>A) n.9201G>A c.9238G>A (p.Glu3080Lys) c.8143G>A (p.Glu2715Lys) c.4327G>A (p.Glu1443Lys) c.3880G>A (p.Glu1294Lys) c.3217G>A (p.Glu1073Lys) c.7732G>A (p.Glu2578Lys) n.9124G>A n.9119G>A | COSMIC |
| 5 | g.13776683A= | CA1528435389 | DNAH5 | c.9129T= (p.Asp3043=) c.9084T= (p.Asp3028=) c.*16T= (n.*16T=) n.9200T= c.9237T= (p.Asp3079=) c.8142T= (p.Asp2714=) c.4326T= (p.Asp1442=) c.3879T= (p.Asp1293=) c.3216T= (p.Asp1072=) c.7731T= (p.Asp2577=) n.9123T= n.9118T= | |
| 5 | g.13776683A>C | CA359209736 | DNAH5 | c.9129T>G (p.Asp3043Glu) c.9084T>G (p.Asp3028Glu) c.*16T>G (n.*16T>G) n.9200T>G c.9237T>G (p.Asp3079Glu) c.8142T>G (p.Asp2714Glu) c.4326T>G (p.Asp1442Glu) c.3879T>G (p.Asp1293Glu) c.3216T>G (p.Asp1072Glu) c.7731T>G (p.Asp2577Glu) n.9123T>G n.9118T>G | gnomAD v4 |
| 5 | g.13776683A>G | CA3202602 | DNAH5 | c.9129T>C (p.Asp3043=) c.9084T>C (p.Asp3028=) c.*16T>C (n.*16T>C) n.9200T>C c.9237T>C (p.Asp3079=) c.8142T>C (p.Asp2714=) c.4326T>C (p.Asp1442=) c.3879T>C (p.Asp1293=) c.3216T>C (p.Asp1072=) c.7731T>C (p.Asp2577=) n.9123T>C n.9118T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776683A>T | CA359209741 | DNAH5 | c.9129T>A (p.Asp3043Glu) c.9084T>A (p.Asp3028Glu) c.*16T>A (n.*16T>A) n.9200T>A c.9237T>A (p.Asp3079Glu) c.8142T>A (p.Asp2714Glu) c.4326T>A (p.Asp1442Glu) c.3879T>A (p.Asp1293Glu) c.3216T>A (p.Asp1072Glu) c.7731T>A (p.Asp2577Glu) n.9123T>A n.9118T>A | |
| 5 | g.13776684T>A | CA3202603 | DNAH5 | c.9128A>T (p.Asp3043Val) c.9083A>T (p.Asp3028Val) c.*15A>T (n.*15A>T) n.9199A>T c.9236A>T (p.Asp3079Val) c.8141A>T (p.Asp2714Val) c.4325A>T (p.Asp1442Val) c.3878A>T (p.Asp1293Val) c.3215A>T (p.Asp1072Val) c.7730A>T (p.Asp2577Val) n.9122A>T n.9117A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776684T>C | CA359209746 | DNAH5 | c.9128A>G (p.Asp3043Gly) c.9083A>G (p.Asp3028Gly) c.*15A>G (n.*15A>G) n.9199A>G c.9236A>G (p.Asp3079Gly) c.8141A>G (p.Asp2714Gly) c.4325A>G (p.Asp1442Gly) c.3878A>G (p.Asp1293Gly) c.3215A>G (p.Asp1072Gly) c.7730A>G (p.Asp2577Gly) n.9122A>G n.9117A>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776684T>G | CA359209754 | DNAH5 | c.9128A>C (p.Asp3043Ala) c.9083A>C (p.Asp3028Ala) c.*15A>C (n.*15A>C) n.9199A>C c.9236A>C (p.Asp3079Ala) c.8141A>C (p.Asp2714Ala) c.4325A>C (p.Asp1442Ala) c.3878A>C (p.Asp1293Ala) c.3215A>C (p.Asp1072Ala) c.7730A>C (p.Asp2577Ala) n.9122A>C n.9117A>C | gnomAD v4 |
| 5 | g.13776684T= | CA1528435401 | DNAH5 | c.9128A= (p.Asp3043=) c.9083A= (p.Asp3028=) c.*15A= (n.*15A=) n.9199A= c.9236A= (p.Asp3079=) c.8141A= (p.Asp2714=) c.4325A= (p.Asp1442=) c.3878A= (p.Asp1293=) c.3215A= (p.Asp1072=) c.7730A= (p.Asp2577=) n.9122A= n.9117A= | |
| 5 | g.13776685C>A | CA359209755 | DNAH5 | c.9127G>T (p.Asp3043Tyr) c.9082G>T (p.Asp3028Tyr) c.*14G>T (n.*14G>T) n.9198G>T c.9235G>T (p.Asp3079Tyr) c.8140G>T (p.Asp2714Tyr) c.4324G>T (p.Asp1442Tyr) c.3877G>T (p.Asp1293Tyr) c.3214G>T (p.Asp1072Tyr) c.7729G>T (p.Asp2577Tyr) n.9121G>T n.9116G>T | |
| 5 | g.13776685C>G | CA359209756 | DNAH5 | c.9127G>C (p.Asp3043His) c.9082G>C (p.Asp3028His) c.*14G>C (n.*14G>C) n.9198G>C c.9235G>C (p.Asp3079His) c.8140G>C (p.Asp2714His) c.4324G>C (p.Asp1442His) c.3877G>C (p.Asp1293His) c.3214G>C (p.Asp1072His) c.7729G>C (p.Asp2577His) n.9121G>C n.9116G>C | |
| 5 | g.13776685C>T | CA359209757 | DNAH5 | c.9127G>A (p.Asp3043Asn) c.9082G>A (p.Asp3028Asn) c.*14G>A (n.*14G>A) n.9198G>A c.9235G>A (p.Asp3079Asn) c.8140G>A (p.Asp2714Asn) c.4324G>A (p.Asp1442Asn) c.3877G>A (p.Asp1293Asn) c.3214G>A (p.Asp1072Asn) c.7729G>A (p.Asp2577Asn) n.9121G>A n.9116G>A | |
| 5 | g.13776686T>A | CA443535811 | DNAH5 | c.9126A>T (p.Arg3042=) c.9081A>T (p.Arg3027=) c.*13A>T (n.*13A>T) n.9197A>T c.9234A>T (p.Arg3078=) c.8139A>T (p.Arg2713=) c.4323A>T (p.Arg1441=) c.3876A>T (p.Arg1292=) c.3213A>T (p.Arg1071=) c.7728A>T (p.Arg2576=) n.9120A>T n.9115A>T | gnomAD v4 |
| 5 | g.13776686T>C | CA443535810 | DNAH5 | c.9126A>G (p.Arg3042=) c.9081A>G (p.Arg3027=) c.*13A>G (n.*13A>G) n.9197A>G c.9234A>G (p.Arg3078=) c.8139A>G (p.Arg2713=) c.4323A>G (p.Arg1441=) c.3876A>G (p.Arg1292=) c.3213A>G (p.Arg1071=) c.7728A>G (p.Arg2576=) n.9120A>G n.9115A>G | |
| 5 | g.13776686T>G | CA443535809 | DNAH5 | c.9126A>C (p.Arg3042=) c.9081A>C (p.Arg3027=) c.*13A>C (n.*13A>C) n.9197A>C c.9234A>C (p.Arg3078=) c.8139A>C (p.Arg2713=) c.4323A>C (p.Arg1441=) c.3876A>C (p.Arg1292=) c.3213A>C (p.Arg1071=) c.7728A>C (p.Arg2576=) n.9120A>C n.9115A>C | |
| 5 | g.13776687C>A | CA3202604 | DNAH5 | c.9125G>T (p.Arg3042Leu) c.9080G>T (p.Arg3027Leu) c.*12G>T (n.*12G>T) n.9196G>T c.9233G>T (p.Arg3078Leu) c.8138G>T (p.Arg2713Leu) c.4322G>T (p.Arg1441Leu) c.3875G>T (p.Arg1292Leu) c.3212G>T (p.Arg1071Leu) c.7727G>T (p.Arg2576Leu) n.9119G>T n.9114G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776687C= | CA1528435408 | DNAH5 | c.9125G= (p.Arg3042=) c.9080G= (p.Arg3027=) c.*12G= (n.*12G=) n.9196G= c.9233G= (p.Arg3078=) c.8138G= (p.Arg2713=) c.4322G= (p.Arg1441=) c.3875G= (p.Arg1292=) c.3212G= (p.Arg1071=) c.7727G= (p.Arg2576=) n.9119G= n.9114G= | |
| 5 | g.13776687C>G | CA359209762 | DNAH5 | c.9125G>C (p.Arg3042Pro) c.9080G>C (p.Arg3027Pro) c.*12G>C (n.*12G>C) n.9196G>C c.9233G>C (p.Arg3078Pro) c.8138G>C (p.Arg2713Pro) c.4322G>C (p.Arg1441Pro) c.3875G>C (p.Arg1292Pro) c.3212G>C (p.Arg1071Pro) c.7727G>C (p.Arg2576Pro) n.9119G>C n.9114G>C | |
| 5 | g.13776687C>T | CA3202605 | DNAH5 | c.9125G>A (p.Arg3042Gln) c.9080G>A (p.Arg3027Gln) c.*12G>A (n.*12G>A) n.9196G>A c.9233G>A (p.Arg3078Gln) c.8138G>A (p.Arg2713Gln) c.4322G>A (p.Arg1441Gln) c.3875G>A (p.Arg1292Gln) c.3212G>A (p.Arg1071Gln) c.7727G>A (p.Arg2576Gln) n.9119G>A n.9114G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.13776688G>A | CA3202606 | DNAH5 | c.9124C>T (p.Arg3042Ter) c.9079C>T (p.Arg3027Ter) c.*11C>T (n.*11C>T) n.9195C>T c.9232C>T (p.Arg3078Ter) c.8137C>T (p.Arg2713Ter) c.4321C>T (p.Arg1441Ter) c.3874C>T (p.Arg1292Ter) c.3211C>T (p.Arg1071Ter) c.7726C>T (p.Arg2576Ter) n.9118C>T n.9113C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13776688G>C | CA3202607 | DNAH5 | c.9124C>G (p.Arg3042Gly) c.9079C>G (p.Arg3027Gly) c.*11C>G (n.*11C>G) n.9195C>G c.9232C>G (p.Arg3078Gly) c.8137C>G (p.Arg2713Gly) c.4321C>G (p.Arg1441Gly) c.3874C>G (p.Arg1292Gly) c.3211C>G (p.Arg1071Gly) c.7726C>G (p.Arg2576Gly) n.9118C>G n.9113C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776688G= | CA1528435421 | DNAH5 | c.9124C= (p.Arg3042=) c.9079C= (p.Arg3027=) c.*11C= (n.*11C=) n.9195C= c.9232C= (p.Arg3078=) c.8137C= (p.Arg2713=) c.4321C= (p.Arg1441=) c.3874C= (p.Arg1292=) c.3211C= (p.Arg1071=) c.7726C= (p.Arg2576=) n.9118C= n.9113C= | |
| 5 | g.13776688G>T | CA443535815 | DNAH5 | c.9124C>A (p.Arg3042=) c.9079C>A (p.Arg3027=) c.*11C>A (n.*11C>A) n.9195C>A c.9232C>A (p.Arg3078=) c.8137C>A (p.Arg2713=) c.4321C>A (p.Arg1441=) c.3874C>A (p.Arg1292=) c.3211C>A (p.Arg1071=) c.7726C>A (p.Arg2576=) n.9118C>A n.9113C>A | COSMIC |
| 5 | g.13776689A= | CA1528435431 | DNAH5 | c.9123T= (p.Ala3041=) c.9078T= (p.Ala3026=) c.*10T= (n.*10T=) n.9194T= c.9231T= (p.Ala3077=) c.8136T= (p.Ala2712=) c.4320T= (p.Ala1440=) c.3873T= (p.Ala1291=) c.3210T= (p.Ala1070=) c.7725T= (p.Ala2575=) n.9117T= n.9112T= | |
| 5 | g.13776689A>C | CA113937786 | DNAH5 | c.9123T>G (p.Ala3041=) c.9078T>G (p.Ala3026=) c.*10T>G (n.*10T>G) n.9194T>G c.9231T>G (p.Ala3077=) c.8136T>G (p.Ala2712=) c.4320T>G (p.Ala1440=) c.3873T>G (p.Ala1291=) c.3210T>G (p.Ala1070=) c.7725T>G (p.Ala2575=) n.9117T>G n.9112T>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.13776689A>G | CA443535817 | DNAH5 | c.9123T>C (p.Ala3041=) c.9078T>C (p.Ala3026=) c.*10T>C (n.*10T>C) n.9194T>C c.9231T>C (p.Ala3077=) c.8136T>C (p.Ala2712=) c.4320T>C (p.Ala1440=) c.3873T>C (p.Ala1291=) c.3210T>C (p.Ala1070=) c.7725T>C (p.Ala2575=) n.9117T>C n.9112T>C | ClinVar dbSNP |
| 5 | g.13776689A>T | CA443535818 | DNAH5 | c.9123T>A (p.Ala3041=) c.9078T>A (p.Ala3026=) c.*10T>A (n.*10T>A) n.9194T>A c.9231T>A (p.Ala3077=) c.8136T>A (p.Ala2712=) c.4320T>A (p.Ala1440=) c.3873T>A (p.Ala1291=) c.3210T>A (p.Ala1070=) c.7725T>A (p.Ala2575=) n.9117T>A n.9112T>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776690G>A | CA359209767 | DNAH5 | c.9122C>T (p.Ala3041Val) c.9077C>T (p.Ala3026Val) c.*9C>T (n.*9C>T) n.9193C>T c.9230C>T (p.Ala3077Val) c.8135C>T (p.Ala2712Val) c.4319C>T (p.Ala1440Val) c.3872C>T (p.Ala1291Val) c.3209C>T (p.Ala1070Val) c.7724C>T (p.Ala2575Val) n.9116C>T n.9111C>T | dbSNP |
| 5 | g.13776690G>C | CA359209769 | DNAH5 | c.9122C>G (p.Ala3041Gly) c.9077C>G (p.Ala3026Gly) c.*9C>G (n.*9C>G) n.9193C>G c.9230C>G (p.Ala3077Gly) c.8135C>G (p.Ala2712Gly) c.4319C>G (p.Ala1440Gly) c.3872C>G (p.Ala1291Gly) c.3209C>G (p.Ala1070Gly) c.7724C>G (p.Ala2575Gly) n.9116C>G n.9111C>G | |
| 5 | g.13776690G= | CA1528435436 | DNAH5 | c.9122C= (p.Ala3041=) c.9077C= (p.Ala3026=) c.*9C= (n.*9C=) n.9193C= c.9230C= (p.Ala3077=) c.8135C= (p.Ala2712=) c.4319C= (p.Ala1440=) c.3872C= (p.Ala1291=) c.3209C= (p.Ala1070=) c.7724C= (p.Ala2575=) n.9116C= n.9111C= | |
| 5 | g.13776690G>T | CA359209772 | DNAH5 | c.9122C>A (p.Ala3041Asp) c.9077C>A (p.Ala3026Asp) c.*9C>A (n.*9C>A) n.9193C>A c.9230C>A (p.Ala3077Asp) c.8135C>A (p.Ala2712Asp) c.4319C>A (p.Ala1440Asp) c.3872C>A (p.Ala1291Asp) c.3209C>A (p.Ala1070Asp) c.7724C>A (p.Ala2575Asp) n.9116C>A n.9111C>A | gnomAD v4 |
| 5 | g.13776690_13776691insA | CA2673268736 | DNAH5 | c.9121_9122insT (p.Ala3041ValfsTer4) c.9076_9077insT (p.Ala3026ValfsTer4) c.*8_*9insT (n.*8_*9insT) n.9192_9193insT c.9229_9230insT (p.Ala3077ValfsTer4) c.8134_8135insT (p.Ala2712ValfsTer4) c.4318_4319insT (p.Ala1440ValfsTer4) c.3871_3872insT (p.Ala1291ValfsTer4) c.3208_3209insT (p.Ala1070ValfsTer4) c.7723_7724insT (p.Ala2575ValfsTer4) n.9115_9116insT n.9110_9111insT | gnomAD v4 |
| 5 | g.13776691C>A | CA359209790 | DNAH5 | c.9121G>T (p.Ala3041Ser) c.9076G>T (p.Ala3026Ser) c.*8G>T (n.*8G>T) n.9192G>T c.9229G>T (p.Ala3077Ser) c.8134G>T (p.Ala2712Ser) c.4318G>T (p.Ala1440Ser) c.3871G>T (p.Ala1291Ser) c.3208G>T (p.Ala1070Ser) c.7723G>T (p.Ala2575Ser) n.9115G>T n.9110G>T | gnomAD v4 |
| 5 | g.13776691C>G | CA359209792 | DNAH5 | c.9121G>C (p.Ala3041Pro) c.9076G>C (p.Ala3026Pro) c.*8G>C (n.*8G>C) n.9192G>C c.9229G>C (p.Ala3077Pro) c.8134G>C (p.Ala2712Pro) c.4318G>C (p.Ala1440Pro) c.3871G>C (p.Ala1291Pro) c.3208G>C (p.Ala1070Pro) c.7723G>C (p.Ala2575Pro) n.9115G>C n.9110G>C | |
| 5 | g.13776691C>T | CA359209794 | DNAH5 | c.9121G>A (p.Ala3041Thr) c.9076G>A (p.Ala3026Thr) c.*8G>A (n.*8G>A) n.9192G>A c.9229G>A (p.Ala3077Thr) c.8134G>A (p.Ala2712Thr) c.4318G>A (p.Ala1440Thr) c.3871G>A (p.Ala1291Thr) c.3208G>A (p.Ala1070Thr) c.7723G>A (p.Ala2575Thr) n.9115G>A n.9110G>A | |
| 5 | g.13776692A>C | CA359209795 | DNAH5 | c.9120T>G (p.Phe3040Leu) c.9075T>G (p.Phe3025Leu) c.*7T>G (n.*7T>G) n.9191T>G c.9228T>G (p.Phe3076Leu) c.8133T>G (p.Phe2711Leu) c.4317T>G (p.Phe1439Leu) c.3870T>G (p.Phe1290Leu) c.3207T>G (p.Phe1069Leu) c.7722T>G (p.Phe2574Leu) n.9114T>G n.9109T>G | |
| 5 | g.13776692A>G | CA443535825 | DNAH5 | c.9120T>C (p.Phe3040=) c.9075T>C (p.Phe3025=) c.*7T>C (n.*7T>C) n.9191T>C c.9228T>C (p.Phe3076=) c.8133T>C (p.Phe2711=) c.4317T>C (p.Phe1439=) c.3870T>C (p.Phe1290=) c.3207T>C (p.Phe1069=) c.7722T>C (p.Phe2574=) n.9114T>C n.9109T>C | |
| 5 | g.13776692A>T | CA359209796 | DNAH5 | c.9120T>A (p.Phe3040Leu) c.9075T>A (p.Phe3025Leu) c.*7T>A (n.*7T>A) n.9191T>A c.9228T>A (p.Phe3076Leu) c.8133T>A (p.Phe2711Leu) c.4317T>A (p.Phe1439Leu) c.3870T>A (p.Phe1290Leu) c.3207T>A (p.Phe1069Leu) c.7722T>A (p.Phe2574Leu) n.9114T>A n.9109T>A | |
| 5 | g.13776693A>C | CA359209798 | DNAH5 | c.9119T>G (p.Phe3040Cys) c.9074T>G (p.Phe3025Cys) c.*6T>G (n.*6T>G) n.9190T>G c.9227T>G (p.Phe3076Cys) c.8132T>G (p.Phe2711Cys) c.4316T>G (p.Phe1439Cys) c.3869T>G (p.Phe1290Cys) c.3206T>G (p.Phe1069Cys) c.7721T>G (p.Phe2574Cys) n.9113T>G n.9108T>G | |
| 5 | g.13776693A>G | CA359209802 | DNAH5 | c.9119T>C (p.Phe3040Ser) c.9074T>C (p.Phe3025Ser) c.*6T>C (n.*6T>C) n.9190T>C c.9227T>C (p.Phe3076Ser) c.8132T>C (p.Phe2711Ser) c.4316T>C (p.Phe1439Ser) c.3869T>C (p.Phe1290Ser) c.3206T>C (p.Phe1069Ser) c.7721T>C (p.Phe2574Ser) n.9113T>C n.9108T>C | |
| 5 | g.13776693A>T | CA359209800 | DNAH5 | c.9119T>A (p.Phe3040Tyr) c.9074T>A (p.Phe3025Tyr) c.*6T>A (n.*6T>A) n.9190T>A c.9227T>A (p.Phe3076Tyr) c.8132T>A (p.Phe2711Tyr) c.4316T>A (p.Phe1439Tyr) c.3869T>A (p.Phe1290Tyr) c.3206T>A (p.Phe1069Tyr) c.7721T>A (p.Phe2574Tyr) n.9113T>A n.9108T>A | gnomAD v4 |
| 5 | g.13776694A>C | CA359209805 | DNAH5 | c.9118T>G (p.Phe3040Val) c.9073T>G (p.Phe3025Val) c.*5T>G (n.*5T>G) n.9189T>G c.9226T>G (p.Phe3076Val) c.8131T>G (p.Phe2711Val) c.4315T>G (p.Phe1439Val) c.3868T>G (p.Phe1290Val) c.3205T>G (p.Phe1069Val) c.7720T>G (p.Phe2574Val) n.9112T>G n.9107T>G | |
| 5 | g.13776694A>G | CA359209807 | DNAH5 | c.9118T>C (p.Phe3040Leu) c.9073T>C (p.Phe3025Leu) c.*5T>C (n.*5T>C) n.9189T>C c.9226T>C (p.Phe3076Leu) c.8131T>C (p.Phe2711Leu) c.4315T>C (p.Phe1439Leu) c.3868T>C (p.Phe1290Leu) c.3205T>C (p.Phe1069Leu) c.7720T>C (p.Phe2574Leu) n.9112T>C n.9107T>C | |
| 5 | g.13776694A>T | CA359209809 | DNAH5 | c.9118T>A (p.Phe3040Ile) c.9073T>A (p.Phe3025Ile) c.*5T>A (n.*5T>A) n.9189T>A c.9226T>A (p.Phe3076Ile) c.8131T>A (p.Phe2711Ile) c.4315T>A (p.Phe1439Ile) c.3868T>A (p.Phe1290Ile) c.3205T>A (p.Phe1069Ile) c.7720T>A (p.Phe2574Ile) n.9112T>A n.9107T>A | |
| 5 | g.13776694_13776699delinsATAGGT | CA1528435438 | DNAH5 | c.9113_9118delinsACCTAT (p.Asn3038=) c.9068_9073delinsACCTAT (p.Asn3023=) c.9108_*5delinsACCTAT (n.[c.9108_*5delinsACCTAT;Ter3036=]) n.9184_9189delinsACCTAT c.9221_9226delinsACCTAT (p.Asn3074=) c.8126_8131delinsACCTAT (p.Asn2709=) c.9216_*5delinsACCTAT (n.[c.9216_*5delinsACCTAT;Ter3072=]) c.4310_4315delinsACCTAT (p.Asn1437=) c.3863_3868delinsACCTAT (p.Asn1288=) c.3200_3205delinsACCTAT (p.Asn1067=) c.7715_7720delinsACCTAT (p.Asn2572=) n.9107_9112delinsACCTAT n.9102_9107delinsACCTAT | |
| 5 | g.13776695T>A | CA443535830 | DNAH5 | c.9117A>T (p.Leu3039=) c.9072A>T (p.Leu3024=) c.*4A>T (n.*4A>T) n.9188A>T c.9225A>T (p.Leu3075=) c.8130A>T (p.Leu2710=) c.4314A>T (p.Leu1438=) c.3867A>T (p.Leu1289=) c.3204A>T (p.Leu1068=) c.7719A>T (p.Leu2573=) n.9111A>T n.9106A>T | |
| 5 | g.13776695T>C | CA3202608 | DNAH5 | c.9117A>G (p.Leu3039=) c.9072A>G (p.Leu3024=) c.*4A>G (n.*4A>G) n.9188A>G c.9225A>G (p.Leu3075=) c.8130A>G (p.Leu2710=) c.4314A>G (p.Leu1438=) c.3867A>G (p.Leu1289=) c.3204A>G (p.Leu1068=) c.7719A>G (p.Leu2573=) n.9111A>G n.9106A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776695T>G | CA443535832 | DNAH5 | c.9117A>C (p.Leu3039=) c.9072A>C (p.Leu3024=) c.*4A>C (n.*4A>C) n.9188A>C c.9225A>C (p.Leu3075=) c.8130A>C (p.Leu2710=) c.4314A>C (p.Leu1438=) c.3867A>C (p.Leu1289=) c.3204A>C (p.Leu1068=) c.7719A>C (p.Leu2573=) n.9111A>C n.9106A>C | |
| 5 | g.13776695T= | CA1528435443 | DNAH5 | c.9117A= (p.Leu3039=) c.9072A= (p.Leu3024=) c.*4A= (n.*4A=) n.9188A= c.9225A= (p.Leu3075=) c.8130A= (p.Leu2710=) c.4314A= (p.Leu1438=) c.3867A= (p.Leu1289=) c.3204A= (p.Leu1068=) c.7719A= (p.Leu2573=) n.9111A= n.9106A= | |
| 5 | g.13776698_13776702del | CA804427824 | DNAH5 | c.9113_9117del (p.Asn3038IlefsTer5) c.9068_9072del (p.Asn3023IlefsTer5) c.9108_*4del (n.[c.9108_*4del;Ter3036TyrextTer?]) n.9184_9188del c.9221_9225del (p.Asn3074IlefsTer5) c.8126_8130del (p.Asn2709IlefsTer5) c.9216_*4del (n.[c.9216_*4del;Ter3072TyrextTer18]) c.4310_4314del (p.Asn1437IlefsTer5) c.3863_3867del (p.Asn1288IlefsTer5) c.3200_3204del (p.Asn1067IlefsTer5) c.7715_7719del (p.Asn2572IlefsTer5) n.9107_9111del n.9102_9106del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.13776696A= | CA1528435447 | DNAH5 | c.9116T= (p.Leu3039=) c.9071T= (p.Leu3024=) c.*3T= (n.*3T=) n.9187T= c.9224T= (p.Leu3075=) c.8129T= (p.Leu2710=) c.4313T= (p.Leu1438=) c.3866T= (p.Leu1289=) c.3203T= (p.Leu1068=) c.7718T= (p.Leu2573=) n.9110T= n.9105T= | |
| 5 | g.13776696A>C | CA359209812 | DNAH5 | c.9116T>G (p.Leu3039Arg) c.9071T>G (p.Leu3024Arg) c.*3T>G (n.*3T>G) n.9187T>G c.9224T>G (p.Leu3075Arg) c.8129T>G (p.Leu2710Arg) c.4313T>G (p.Leu1438Arg) c.3866T>G (p.Leu1289Arg) c.3203T>G (p.Leu1068Arg) c.7718T>G (p.Leu2573Arg) n.9110T>G n.9105T>G | |
| 5 | g.13776696A>G | CA3202609 | DNAH5 | c.9116T>C (p.Leu3039Pro) c.9071T>C (p.Leu3024Pro) c.*3T>C (n.*3T>C) n.9187T>C c.9224T>C (p.Leu3075Pro) c.8129T>C (p.Leu2710Pro) c.4313T>C (p.Leu1438Pro) c.3866T>C (p.Leu1289Pro) c.3203T>C (p.Leu1068Pro) c.7718T>C (p.Leu2573Pro) n.9110T>C n.9105T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776696A>T | CA359209816 | DNAH5 | c.9116T>A (p.Leu3039Gln) c.9071T>A (p.Leu3024Gln) c.*3T>A (n.*3T>A) n.9187T>A c.9224T>A (p.Leu3075Gln) c.8129T>A (p.Leu2710Gln) c.4313T>A (p.Leu1438Gln) c.3866T>A (p.Leu1289Gln) c.3203T>A (p.Leu1068Gln) c.7718T>A (p.Leu2573Gln) n.9110T>A n.9105T>A | |
| 5 | g.13776697G>A | CA443535834 | DNAH5 | c.9115C>T (p.Leu3039=) c.9070C>T (p.Leu3024=) c.*2C>T (n.*2C>T) n.9186C>T c.9223C>T (p.Leu3075=) c.8128C>T (p.Leu2710=) c.4312C>T (p.Leu1438=) c.3865C>T (p.Leu1289=) c.3202C>T (p.Leu1068=) c.7717C>T (p.Leu2573=) n.9109C>T n.9104C>T | |
| 5 | g.13776697G>C | CA359209819 | DNAH5 | c.9115C>G (p.Leu3039Val) c.9070C>G (p.Leu3024Val) c.*2C>G (n.*2C>G) n.9186C>G c.9223C>G (p.Leu3075Val) c.8128C>G (p.Leu2710Val) c.4312C>G (p.Leu1438Val) c.3865C>G (p.Leu1289Val) c.3202C>G (p.Leu1068Val) c.7717C>G (p.Leu2573Val) n.9109C>G n.9104C>G | |
| 5 | g.13776697G>T | CA359209829 | DNAH5 | c.9115C>A (p.Leu3039Ile) c.9070C>A (p.Leu3024Ile) c.*2C>A (n.*2C>A) n.9186C>A c.9223C>A (p.Leu3075Ile) c.8128C>A (p.Leu2710Ile) c.4312C>A (p.Leu1438Ile) c.3865C>A (p.Leu1289Ile) c.3202C>A (p.Leu1068Ile) c.7717C>A (p.Leu2573Ile) n.9109C>A n.9104C>A | gnomAD v4 |
| 5 | g.13776698G>A | CA443535835 | DNAH5 | c.9114C>T (p.Asn3038=) c.9069C>T (p.Asn3023=) c.*1C>T (n.*1C>T) n.9185C>T c.9222C>T (p.Asn3074=) c.8127C>T (p.Asn2709=) c.4311C>T (p.Asn1437=) c.3864C>T (p.Asn1288=) c.3201C>T (p.Asn1067=) c.7716C>T (p.Asn2572=) n.9108C>T n.9103C>T | |
| 5 | g.13776698G>C | CA359209834 | DNAH5 | c.9114C>G (p.Asn3038Lys) c.9069C>G (p.Asn3023Lys) c.*1C>G (n.*1C>G) n.9185C>G c.9222C>G (p.Asn3074Lys) c.8127C>G (p.Asn2709Lys) c.4311C>G (p.Asn1437Lys) c.3864C>G (p.Asn1288Lys) c.3201C>G (p.Asn1067Lys) c.7716C>G (p.Asn2572Lys) n.9108C>G n.9103C>G | dbSNP gnomAD v4 |
| 5 | g.13776698G= | CA1528435450 | DNAH5 | c.9114C= (p.Asn3038=) c.9069C= (p.Asn3023=) c.*1C= (n.*1C=) n.9185C= c.9222C= (p.Asn3074=) c.8127C= (p.Asn2709=) c.4311C= (p.Asn1437=) c.3864C= (p.Asn1288=) c.3201C= (p.Asn1067=) c.7716C= (p.Asn2572=) n.9108C= n.9103C= | |
| 5 | g.13776698G>T | CA359209835 | DNAH5 | c.9114C>A (p.Asn3038Lys) c.9069C>A (p.Asn3023Lys) c.*1C>A (n.*1C>A) n.9185C>A c.9222C>A (p.Asn3074Lys) c.8127C>A (p.Asn2709Lys) c.4311C>A (p.Asn1437Lys) c.3864C>A (p.Asn1288Lys) c.3201C>A (p.Asn1067Lys) c.7716C>A (p.Asn2572Lys) n.9108C>A n.9103C>A | |
| 5 | g.13776699T>A | CA359209839 | DNAH5 | c.9113A>T (p.Asn3038Ile) c.9068A>T (p.Asn3023Ile) c.9108A>T (p.Ter3036Tyr) n.9184A>T c.9221A>T (p.Asn3074Ile) c.8126A>T (p.Asn2709Ile) c.9216A>T (p.Ter3072Tyr) c.4310A>T (p.Asn1437Ile) c.3863A>T (p.Asn1288Ile) c.3200A>T (p.Asn1067Ile) c.7715A>T (p.Asn2572Ile) n.9107A>T n.9102A>T | |
| 5 | g.13776699T>C | CA359209841 | DNAH5 | c.9113A>G (p.Asn3038Ser) c.9068A>G (p.Asn3023Ser) c.9108A>G (p.Ter3036=) n.9184A>G c.9221A>G (p.Asn3074Ser) c.8126A>G (p.Asn2709Ser) c.9216A>G (p.Ter3072=) c.4310A>G (p.Asn1437Ser) c.3863A>G (p.Asn1288Ser) c.3200A>G (p.Asn1067Ser) c.7715A>G (p.Asn2572Ser) n.9107A>G n.9102A>G | |
| 5 | g.13776699T>G | CA359209844 | DNAH5 | c.9113A>C (p.Asn3038Thr) c.9068A>C (p.Asn3023Thr) c.9108A>C (p.Ter3036Tyr) n.9184A>C c.9221A>C (p.Asn3074Thr) c.8126A>C (p.Asn2709Thr) c.9216A>C (p.Ter3072Tyr) c.4310A>C (p.Asn1437Thr) c.3863A>C (p.Asn1288Thr) c.3200A>C (p.Asn1067Thr) c.7715A>C (p.Asn2572Thr) n.9107A>C n.9102A>C | |
| 5 | g.13776700T>A | CA359209845 | DNAH5 | c.9112A>T (p.Asn3038Tyr) c.9067A>T (p.Asn3023Tyr) c.9107A>T (p.Ter3036Leu) n.9183A>T c.9220A>T (p.Asn3074Tyr) c.8125A>T (p.Asn2709Tyr) c.9215A>T (p.Ter3072Leu) c.4309A>T (p.Asn1437Tyr) c.3862A>T (p.Asn1288Tyr) c.3199A>T (p.Asn1067Tyr) c.7714A>T (p.Asn2572Tyr) n.9106A>T n.9101A>T | |
| 5 | g.13776700T>C | CA359209846 | DNAH5 | c.9112A>G (p.Asn3038Asp) c.9067A>G (p.Asn3023Asp) c.9107A>G (p.Ter3036=) n.9183A>G c.9220A>G (p.Asn3074Asp) c.8125A>G (p.Asn2709Asp) c.9215A>G (p.Ter3072=) c.4309A>G (p.Asn1437Asp) c.3862A>G (p.Asn1288Asp) c.3199A>G (p.Asn1067Asp) c.7714A>G (p.Asn2572Asp) n.9106A>G n.9101A>G | |
| 5 | g.13776700T>G | CA359209847 | DNAH5 | c.9112A>C (p.Asn3038His) c.9067A>C (p.Asn3023His) c.9107A>C (p.Ter3036Ser) n.9183A>C c.9220A>C (p.Asn3074His) c.8125A>C (p.Asn2709His) c.9215A>C (p.Ter3072Ser) c.4309A>C (p.Asn1437His) c.3862A>C (p.Asn1288His) c.3199A>C (p.Asn1067His) c.7714A>C (p.Asn2572His) n.9106A>C n.9101A>C | |
| 5 | g.13776701A= | CA1528435453 | DNAH5 | c.9111T= (p.Ser3037=) c.9066T= (p.Ser3022=) c.9106T= (p.Ter3036=) n.9182T= c.9219T= (p.Ser3073=) c.8124T= (p.Ser2708=) c.9214T= (p.Ter3072=) c.4308T= (p.Ser1436=) c.3861T= (p.Ser1287=) c.3198T= (p.Ser1066=) c.7713T= (p.Ser2571=) n.9105T= n.9100T= | |
| 5 | g.13776701A>C | CA443535844 | DNAH5 | c.9111T>G (p.Ser3037=) c.9066T>G (p.Ser3022=) c.9106T>G (p.Ter3036Glu) n.9182T>G c.9219T>G (p.Ser3073=) c.8124T>G (p.Ser2708=) c.9214T>G (p.Ter3072Glu) c.4308T>G (p.Ser1436=) c.3861T>G (p.Ser1287=) c.3198T>G (p.Ser1066=) c.7713T>G (p.Ser2571=) n.9105T>G n.9100T>G | |
| 5 | g.13776701A>G | CA3202610 | DNAH5 | c.9111T>C (p.Ser3037=) c.9066T>C (p.Ser3022=) c.9106T>C (p.Ter3036Gln) n.9182T>C c.9219T>C (p.Ser3073=) c.8124T>C (p.Ser2708=) c.9214T>C (p.Ter3072Gln) c.4308T>C (p.Ser1436=) c.3861T>C (p.Ser1287=) c.3198T>C (p.Ser1066=) c.7713T>C (p.Ser2571=) n.9105T>C n.9100T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776701A>T | CA443535845 | DNAH5 | c.9111T>A (p.Ser3037=) c.9066T>A (p.Ser3022=) c.9106T>A (p.Ter3036Lys) n.9182T>A c.9219T>A (p.Ser3073=) c.8124T>A (p.Ser2708=) c.9214T>A (p.Ter3072Lys) c.4308T>A (p.Ser1436=) c.3861T>A (p.Ser1287=) c.3198T>A (p.Ser1066=) c.7713T>A (p.Ser2571=) n.9105T>A n.9100T>A | |
| 5 | g.13776702G>A | CA359209852 | DNAH5 | c.9110C>T (p.Ser3037Phe) c.9065C>T (p.Ser3022Phe) c.9105C>T (p.Leu3035=) n.9181C>T c.9218C>T (p.Ser3073Phe) c.8123C>T (p.Ser2708Phe) c.9213C>T (p.Leu3071=) c.4307C>T (p.Ser1436Phe) c.3860C>T (p.Ser1287Phe) c.3197C>T (p.Ser1066Phe) c.7712C>T (p.Ser2571Phe) n.9104C>T n.9099C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776702G>C | CA359209857 | DNAH5 | c.9110C>G (p.Ser3037Cys) c.9065C>G (p.Ser3022Cys) c.9105C>G (p.Leu3035=) n.9181C>G c.9218C>G (p.Ser3073Cys) c.8123C>G (p.Ser2708Cys) c.9213C>G (p.Leu3071=) c.4307C>G (p.Ser1436Cys) c.3860C>G (p.Ser1287Cys) c.3197C>G (p.Ser1066Cys) c.7712C>G (p.Ser2571Cys) n.9104C>G n.9099C>G | |
| 5 | g.13776702G= | CA1528435457 | DNAH5 | c.9110C= (p.Ser3037=) c.9065C= (p.Ser3022=) c.9105C= (p.Leu3035=) n.9181C= c.9218C= (p.Ser3073=) c.8123C= (p.Ser2708=) c.9213C= (p.Leu3071=) c.4307C= (p.Ser1436=) c.3860C= (p.Ser1287=) c.3197C= (p.Ser1066=) c.7712C= (p.Ser2571=) n.9104C= n.9099C= | |
| 5 | g.13776702G>T | CA359209854 | DNAH5 | c.9110C>A (p.Ser3037Tyr) c.9065C>A (p.Ser3022Tyr) c.9105C>A (p.Leu3035=) n.9181C>A c.9218C>A (p.Ser3073Tyr) c.8123C>A (p.Ser2708Tyr) c.9213C>A (p.Leu3071=) c.4307C>A (p.Ser1436Tyr) c.3860C>A (p.Ser1287Tyr) c.3197C>A (p.Ser1066Tyr) c.7712C>A (p.Ser2571Tyr) n.9104C>A n.9099C>A | COSMIC |
| 5 | g.13776703A>C | CA359209861 | DNAH5 | c.9109T>G (p.Ser3037Ala) c.9064T>G (p.Ser3022Ala) c.9104T>G (p.Leu3035Arg) n.9180T>G c.9217T>G (p.Ser3073Ala) c.8122T>G (p.Ser2708Ala) c.9212T>G (p.Leu3071Arg) c.4306T>G (p.Ser1436Ala) c.3859T>G (p.Ser1287Ala) c.3196T>G (p.Ser1066Ala) c.7711T>G (p.Ser2571Ala) n.9103T>G n.9098T>G | |
| 5 | g.13776703A>G | CA359209863 | DNAH5 | c.9109T>C (p.Ser3037Pro) c.9064T>C (p.Ser3022Pro) c.9104T>C (p.Leu3035Pro) n.9180T>C c.9217T>C (p.Ser3073Pro) c.8122T>C (p.Ser2708Pro) c.9212T>C (p.Leu3071Pro) c.4306T>C (p.Ser1436Pro) c.3859T>C (p.Ser1287Pro) c.3196T>C (p.Ser1066Pro) c.7711T>C (p.Ser2571Pro) n.9103T>C n.9098T>C | |
| 5 | g.13776703A>T | CA359209866 | DNAH5 | c.9109T>A (p.Ser3037Thr) c.9064T>A (p.Ser3022Thr) c.9104T>A (p.Leu3035His) n.9180T>A c.9217T>A (p.Ser3073Thr) c.8122T>A (p.Ser2708Thr) c.9212T>A (p.Leu3071His) c.4306T>A (p.Ser1436Thr) c.3859T>A (p.Ser1287Thr) c.3196T>A (p.Ser1066Thr) c.7711T>A (p.Ser2571Thr) n.9103T>A n.9098T>A | |
| 5 | g.13776704G>A | CA443535847 | DNAH5 | c.9108C>T (p.Val3036=) c.9063C>T (p.Val3021=) c.9103C>T (p.Leu3035Phe) n.9179C>T c.9216C>T (p.Val3072=) c.8121C>T (p.Val2707=) c.9211C>T (p.Leu3071Phe) c.4305C>T (p.Val1435=) c.3858C>T (p.Val1286=) c.3195C>T (p.Val1065=) c.7710C>T (p.Val2570=) n.9102C>T n.9097C>T | gnomAD v4 |
| 5 | g.13776704G>C | CA443535849 | DNAH5 | c.9108C>G (p.Val3036=) c.9063C>G (p.Val3021=) c.9103C>G (p.Leu3035Val) n.9179C>G c.9216C>G (p.Val3072=) c.8121C>G (p.Val2707=) c.9211C>G (p.Leu3071Val) c.4305C>G (p.Val1435=) c.3858C>G (p.Val1286=) c.3195C>G (p.Val1065=) c.7710C>G (p.Val2570=) n.9102C>G n.9097C>G | |
| 5 | g.13776704G= | CA1528435460 | DNAH5 | c.9108C= (p.Val3036=) c.9063C= (p.Val3021=) c.9103C= (p.Leu3035=) n.9179C= c.9216C= (p.Val3072=) c.8121C= (p.Val2707=) c.9211C= (p.Leu3071=) c.4305C= (p.Val1435=) c.3858C= (p.Val1286=) c.3195C= (p.Val1065=) c.7710C= (p.Val2570=) n.9102C= n.9097C= | |
| 5 | g.13776704G>T | CA3202611 | DNAH5 | c.9108C>A (p.Val3036=) c.9063C>A (p.Val3021=) c.9103C>A (p.Leu3035Ile) n.9179C>A c.9216C>A (p.Val3072=) c.8121C>A (p.Val2707=) c.9211C>A (p.Leu3071Ile) c.4305C>A (p.Val1435=) c.3858C>A (p.Val1286=) c.3195C>A (p.Val1065=) c.7710C>A (p.Val2570=) n.9102C>A n.9097C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.13776705A>C | CA359209868 | DNAH5 | c.9107T>G (p.Val3036Gly) c.9062T>G (p.Val3021Gly) c.9102T>G (p.Gly3034=) n.9178T>G c.9215T>G (p.Val3072Gly) c.8120T>G (p.Val2707Gly) c.9210T>G (p.Gly3070=) c.4304T>G (p.Val1435Gly) c.3857T>G (p.Val1286Gly) c.3194T>G (p.Val1065Gly) c.7709T>G (p.Val2570Gly) n.9101T>G n.9096T>G | |
| 5 | g.13776705A>G | CA359209869 | DNAH5 | c.9107T>C (p.Val3036Ala) c.9062T>C (p.Val3021Ala) c.9102T>C (p.Gly3034=) n.9178T>C c.9215T>C (p.Val3072Ala) c.8120T>C (p.Val2707Ala) c.9210T>C (p.Gly3070=) c.4304T>C (p.Val1435Ala) c.3857T>C (p.Val1286Ala) c.3194T>C (p.Val1065Ala) c.7709T>C (p.Val2570Ala) n.9101T>C n.9096T>C | |
| 5 | g.13776705A>T | CA359209872 | DNAH5 | c.9107T>A (p.Val3036Asp) c.9062T>A (p.Val3021Asp) c.9102T>A (p.Gly3034=) n.9178T>A c.9215T>A (p.Val3072Asp) c.8120T>A (p.Val2707Asp) c.9210T>A (p.Gly3070=) c.4304T>A (p.Val1435Asp) c.3857T>A (p.Val1286Asp) c.3194T>A (p.Val1065Asp) c.7709T>A (p.Val2570Asp) n.9101T>A n.9096T>A | |
| 5 | g.13776706C>A | CA359209876 | DNAH5 | c.9106G>T (p.Val3036Phe) c.9061G>T (p.Val3021Phe) c.9101G>T (p.Gly3034Val) n.9177G>T c.9214G>T (p.Val3072Phe) c.8119G>T (p.Val2707Phe) c.9209G>T (p.Gly3070Val) c.4303G>T (p.Val1435Phe) c.3856G>T (p.Val1286Phe) c.3193G>T (p.Val1065Phe) c.7708G>T (p.Val2570Phe) n.9100G>T n.9095G>T | gnomAD v4 |
| 5 | g.13776706C= | CA1528435462 | DNAH5 | c.9106G= (p.Val3036=) c.9061G= (p.Val3021=) c.9101G= (p.Gly3034=) n.9177G= c.9214G= (p.Val3072=) c.8119G= (p.Val2707=) c.9209G= (p.Gly3070=) c.4303G= (p.Val1435=) c.3856G= (p.Val1286=) c.3193G= (p.Val1065=) c.7708G= (p.Val2570=) n.9100G= n.9095G= | |
| 5 | g.13776706C>G | CA359209877 | DNAH5 | c.9106G>C (p.Val3036Leu) c.9061G>C (p.Val3021Leu) c.9101G>C (p.Gly3034Ala) n.9177G>C c.9214G>C (p.Val3072Leu) c.8119G>C (p.Val2707Leu) c.9209G>C (p.Gly3070Ala) c.4303G>C (p.Val1435Leu) c.3856G>C (p.Val1286Leu) c.3193G>C (p.Val1065Leu) c.7708G>C (p.Val2570Leu) n.9100G>C n.9095G>C | |
| 5 | g.13776706C>T | CA359209880 | DNAH5 | c.9106G>A (p.Val3036Ile) c.9061G>A (p.Val3021Ile) c.9101G>A (p.Gly3034Asp) n.9177G>A c.9214G>A (p.Val3072Ile) c.8119G>A (p.Val2707Ile) c.9209G>A (p.Gly3070Asp) c.4303G>A (p.Val1435Ile) c.3856G>A (p.Val1286Ile) c.3193G>A (p.Val1065Ile) c.7708G>A (p.Val2570Ile) n.9100G>A n.9095G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.13776707C>A | CA359209883 | DNAH5 | c.9106-1G>T (n.9106-1G>T) c.9061-1G>T (n.9061-1G>T) c.9101-1G>T (n.9101-1G>T) n.9177-1G>T c.9214-1G>T (n.9214-1G>T) c.8119-1G>T (n.8119-1G>T) c.9209-1G>T (n.9209-1G>T) c.4303-1G>T (n.4303-1G>T) c.3856-1G>T (n.3856-1G>T) c.3193-1G>T (n.3193-1G>T) c.7708-1G>T (n.7708-1G>T) n.9100-1G>T n.9095-1G>T | |
| 5 | g.13776707C= | CA1528435464 | DNAH5 | c.9106-1G= (n.9106-1G=) c.9061-1G= (n.9061-1G=) c.9101-1G= (n.9101-1G=) n.9177-1G= c.9214-1G= (n.9214-1G=) c.8119-1G= (n.8119-1G=) c.9209-1G= (n.9209-1G=) c.4303-1G= (n.4303-1G=) c.3856-1G= (n.3856-1G=) c.3193-1G= (n.3193-1G=) c.7708-1G= (n.7708-1G=) n.9100-1G= n.9095-1G= | |
| 5 | g.13776707C>G | CA359209886 | DNAH5 | c.9106-1G>C (n.9106-1G>C) c.9061-1G>C (n.9061-1G>C) c.9101-1G>C (n.9101-1G>C) n.9177-1G>C c.9214-1G>C (n.9214-1G>C) c.8119-1G>C (n.8119-1G>C) c.9209-1G>C (n.9209-1G>C) c.4303-1G>C (n.4303-1G>C) c.3856-1G>C (n.3856-1G>C) c.3193-1G>C (n.3193-1G>C) c.7708-1G>C (n.7708-1G>C) n.9100-1G>C n.9095-1G>C | |
| 5 | g.13776707C>T | CA3202612 | DNAH5 | c.9106-1G>A (n.9106-1G>A) c.9061-1G>A (n.9061-1G>A) c.9101-1G>A (n.9101-1G>A) n.9177-1G>A c.9214-1G>A (n.9214-1G>A) c.8119-1G>A (n.8119-1G>A) c.9209-1G>A (n.9209-1G>A) c.4303-1G>A (n.4303-1G>A) c.3856-1G>A (n.3856-1G>A) c.3193-1G>A (n.3193-1G>A) c.7708-1G>A (n.7708-1G>A) n.9100-1G>A n.9095-1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.13776708T>A | CA359209894 | DNAH5 | c.9106-2A>T (n.9106-2A>T) c.9061-2A>T (n.9061-2A>T) c.9101-2A>T (n.9101-2A>T) n.9177-2A>T c.9214-2A>T (n.9214-2A>T) c.8119-2A>T (n.8119-2A>T) c.9209-2A>T (n.9209-2A>T) c.4303-2A>T (n.4303-2A>T) c.3856-2A>T (n.3856-2A>T) c.3193-2A>T (n.3193-2A>T) c.7708-2A>T (n.7708-2A>T) n.9100-2A>T n.9095-2A>T | |
| 5 | g.13776708T>C | CA359209906 | DNAH5 | c.9106-2A>G (n.9106-2A>G) c.9061-2A>G (n.9061-2A>G) c.9101-2A>G (n.9101-2A>G) n.9177-2A>G c.9214-2A>G (n.9214-2A>G) c.8119-2A>G (n.8119-2A>G) c.9209-2A>G (n.9209-2A>G) c.4303-2A>G (n.4303-2A>G) c.3856-2A>G (n.3856-2A>G) c.3193-2A>G (n.3193-2A>G) c.7708-2A>G (n.7708-2A>G) n.9100-2A>G n.9095-2A>G | |
| 5 | g.13776708T>G | CA359209895 | DNAH5 | c.9106-2A>C (n.9106-2A>C) c.9061-2A>C (n.9061-2A>C) c.9101-2A>C (n.9101-2A>C) n.9177-2A>C c.9214-2A>C (n.9214-2A>C) c.8119-2A>C (n.8119-2A>C) c.9209-2A>C (n.9209-2A>C) c.4303-2A>C (n.4303-2A>C) c.3856-2A>C (n.3856-2A>C) c.3193-2A>C (n.3193-2A>C) c.7708-2A>C (n.7708-2A>C) n.9100-2A>C n.9095-2A>C | |
| 5 | g.13776709T>C | CA557876524 | DNAH5 | c.9106-3A>G (n.9106-3A>G) c.9061-3A>G (n.9061-3A>G) c.9101-3A>G (n.9101-3A>G) n.9177-3A>G c.9214-3A>G (n.9214-3A>G) c.8119-3A>G (n.8119-3A>G) c.9209-3A>G (n.9209-3A>G) c.4303-3A>G (n.4303-3A>G) c.3856-3A>G (n.3856-3A>G) c.3193-3A>G (n.3193-3A>G) c.7708-3A>G (n.7708-3A>G) n.9100-3A>G n.9095-3A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.13776709T= | CA1528435467 | DNAH5 | c.9106-3A= (n.9106-3A=) c.9061-3A= (n.9061-3A=) c.9101-3A= (n.9101-3A=) n.9177-3A= c.9214-3A= (n.9214-3A=) c.8119-3A= (n.8119-3A=) c.9209-3A= (n.9209-3A=) c.4303-3A= (n.4303-3A=) c.3856-3A= (n.3856-3A=) c.3193-3A= (n.3193-3A=) c.7708-3A= (n.7708-3A=) n.9100-3A= n.9095-3A= | |
| 5 | g.13776710A>G | CA2563855321 | DNAH5 | c.9106-4T>C (n.9106-4T>C) c.9061-4T>C (n.9061-4T>C) c.9101-4T>C (n.9101-4T>C) n.9177-4T>C c.9214-4T>C (n.9214-4T>C) c.8119-4T>C (n.8119-4T>C) c.9209-4T>C (n.9209-4T>C) c.4303-4T>C (n.4303-4T>C) c.3856-4T>C (n.3856-4T>C) c.3193-4T>C (n.3193-4T>C) c.7708-4T>C (n.7708-4T>C) n.9100-4T>C n.9095-4T>C | |
| 5 | g.13776710A>T | CA2499217612 | DNAH5 | c.9106-4T>A (n.9106-4T>A) c.9061-4T>A (n.9061-4T>A) c.9101-4T>A (n.9101-4T>A) n.9177-4T>A c.9214-4T>A (n.9214-4T>A) c.8119-4T>A (n.8119-4T>A) c.9209-4T>A (n.9209-4T>A) c.4303-4T>A (n.4303-4T>A) c.3856-4T>A (n.3856-4T>A) c.3193-4T>A (n.3193-4T>A) c.7708-4T>A (n.7708-4T>A) n.9100-4T>A n.9095-4T>A | ClinVar dbSNP |
| 5 | g.13776714del | CA2580072021 | DNAH5 | c.9106-4del (n.9106-4del) c.9061-4del (n.9061-4del) c.9101-4del (n.9101-4del) n.9177-4del c.9214-4del (n.9214-4del) c.8119-4del (n.8119-4del) c.9209-4del (n.9209-4del) c.4303-4del (n.4303-4del) c.3856-4del (n.3856-4del) c.3193-4del (n.3193-4del) c.7708-4del (n.7708-4del) n.9100-4del n.9095-4del | ClinVar |
| 5 | g.13776712_13776714del | CA2673268737 | DNAH5 | c.9106-6_9106-4del (n.9106-6_9106-4del) c.9061-6_9061-4del (n.9061-6_9061-4del) c.9101-6_9101-4del (n.9101-6_9101-4del) n.9177-6_9177-4del c.9214-6_9214-4del (n.9214-6_9214-4del) c.8119-6_8119-4del (n.8119-6_8119-4del) c.9209-6_9209-4del (n.9209-6_9209-4del) c.4303-6_4303-4del (n.4303-6_4303-4del) c.3856-6_3856-4del (n.3856-6_3856-4del) c.3193-6_3193-4del (n.3193-6_3193-4del) c.7708-6_7708-4del (n.7708-6_7708-4del) n.9100-6_9100-4del n.9095-6_9095-4del | gnomAD v4 |
| 5 | g.13776711A>G | CA2673268738 | DNAH5 | c.9106-5T>C (n.9106-5T>C) c.9061-5T>C (n.9061-5T>C) c.9101-5T>C (n.9101-5T>C) n.9177-5T>C c.9214-5T>C (n.9214-5T>C) c.8119-5T>C (n.8119-5T>C) c.9209-5T>C (n.9209-5T>C) c.4303-5T>C (n.4303-5T>C) c.3856-5T>C (n.3856-5T>C) c.3193-5T>C (n.3193-5T>C) c.7708-5T>C (n.7708-5T>C) n.9100-5T>C n.9095-5T>C | gnomAD v4 |
| 5 | g.13776712A>G | CA2580072022 | DNAH5 | c.9106-6T>C (n.9106-6T>C) c.9061-6T>C (n.9061-6T>C) c.9101-6T>C (n.9101-6T>C) n.9177-6T>C c.9214-6T>C (n.9214-6T>C) c.8119-6T>C (n.8119-6T>C) c.9209-6T>C (n.9209-6T>C) c.4303-6T>C (n.4303-6T>C) c.3856-6T>C (n.3856-6T>C) c.3193-6T>C (n.3193-6T>C) c.7708-6T>C (n.7708-6T>C) n.9100-6T>C n.9095-6T>C | ClinVar |